Name: rs2293347
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs2293347

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:55201223 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.091031 (24095/264690, TOPMED)
T=0.137456 (34569/251492, GnomAD_exome)
T=0.100731 (24254/240780, ALFA) (+ 27 more)
T=0.091909 (12883/140172, GnomAD)
T=0.133712 (16231/121388, ExAC)
T=0.10537 (8293/78702, PAGE_STUDY)
T=0.33159 (9370/28258, 14KJPN)
T=0.33011 (5532/16758, 8.3KJPN)
T=0.07043 (916/13006, GO-ESP)
T=0.1382 (885/6404, 1000G_30x)
T=0.1418 (710/5008, 1000G)
T=0.1076 (482/4480, Estonian)
T=0.1038 (400/3854, ALSPAC)
T=0.1084 (402/3708, TWINSUK)
T=0.3392 (994/2930, KOREAN)
T=0.1713 (357/2084, HGDP_Stanford)
T=0.3335 (611/1832, Korea1K)
T=0.1256 (215/1712, HapMap)
T=0.104 (104/998, GoNL)
T=0.298 (234/786, PRJEB37584)
T=0.101 (63/626, Chileans)
T=0.205 (126/614, Vietnamese)
T=0.135 (81/600, NorthernSweden)
T=0.099 (53/534, MGP)
T=0.197 (60/304, FINRISK)
T=0.051 (11/216, Qatari)
C=0.449 (79/176, SGDP_PRJ)
T=0.21 (18/84, Ancient Sardinia)
T=0.03 (1/40, GENOME_DK)
C=0.46 (11/24, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: EGFR : Missense Variant
Publications: 20 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	257134	C=0.900865	T=0.099135
European	Sub	211862	C=0.901233	T=0.098767
African	Sub	13672	C=0.97264	T=0.02736
African Others	Sub	468	C=0.987	T=0.013
African American	Sub	13204	C=0.97213	T=0.02787
Asian	Sub	840	C=0.745	T=0.255
East Asian	Sub	632	C=0.729	T=0.271
Other Asian	Sub	208	C=0.793	T=0.207
Latin American 1	Sub	1344	C=0.9308	T=0.0692
Latin American 2	Sub	9078	C=0.8620	T=0.1380
South Asian	Sub	5058	C=0.7772	T=0.2228
Other	Sub	15280	C=0.90151	T=0.09849

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.908969	T=0.091031
gnomAD - Exomes	Global	Study-wide	251492	C=0.862544	T=0.137456
gnomAD - Exomes	European	Sub	135416	C=0.885339	T=0.114661
gnomAD - Exomes	Asian	Sub	49008	C=0.75604	T=0.24396
gnomAD - Exomes	American	Sub	34592	C=0.84956	T=0.15044
gnomAD - Exomes	African	Sub	16256	C=0.97638	T=0.02362
gnomAD - Exomes	Ashkenazi Jewish	Sub	10080	C=0.92688	T=0.07312
gnomAD - Exomes	Other	Sub	6140	C=0.8761	T=0.1239
Allele Frequency Aggregator	Total	Global	240780	C=0.899269	T=0.100731
Allele Frequency Aggregator	European	Sub	201780	C=0.901145	T=0.098855
Allele Frequency Aggregator	Other	Sub	13846	C=0.90134	T=0.09866
Allele Frequency Aggregator	Latin American 2	Sub	9078	C=0.8620	T=0.1380
Allele Frequency Aggregator	African	Sub	8834	C=0.9712	T=0.0288
Allele Frequency Aggregator	South Asian	Sub	5058	C=0.7772	T=0.2228
Allele Frequency Aggregator	Latin American 1	Sub	1344	C=0.9308	T=0.0692
Allele Frequency Aggregator	Asian	Sub	840	C=0.745	T=0.255
gnomAD - Genomes	Global	Study-wide	140172	C=0.908091	T=0.091909
gnomAD - Genomes	European	Sub	75906	C=0.88722	T=0.11278
gnomAD - Genomes	African	Sub	42020	C=0.97185	T=0.02815
gnomAD - Genomes	American	Sub	13654	C=0.86524	T=0.13476
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.9275	T=0.0725
gnomAD - Genomes	East Asian	Sub	3126	C=0.7287	T=0.2713
gnomAD - Genomes	Other	Sub	2142	C=0.9020	T=0.0980
ExAC	Global	Study-wide	121388	C=0.866288	T=0.133712
ExAC	Europe	Sub	73340	C=0.89112	T=0.10888
ExAC	Asian	Sub	25160	C=0.75735	T=0.24265
ExAC	American	Sub	11578	C=0.84764	T=0.15236
ExAC	African	Sub	10402	C=0.97674	T=0.02326
ExAC	Other	Sub	908	C=0.851	T=0.149
The PAGE Study	Global	Study-wide	78702	C=0.89463	T=0.10537
The PAGE Study	AfricanAmerican	Sub	32516	C=0.97112	T=0.02888
The PAGE Study	Mexican	Sub	10810	C=0.84820	T=0.15180
The PAGE Study	Asian	Sub	8318	C=0.6809	T=0.3191
The PAGE Study	PuertoRican	Sub	7918	C=0.8813	T=0.1187
The PAGE Study	NativeHawaiian	Sub	4534	C=0.8772	T=0.1228
The PAGE Study	Cuban	Sub	4230	C=0.9149	T=0.0851
The PAGE Study	Dominican	Sub	3828	C=0.9357	T=0.0643
The PAGE Study	CentralAmerican	Sub	2450	C=0.8592	T=0.1408
The PAGE Study	SouthAmerican	Sub	1982	C=0.8567	T=0.1433
The PAGE Study	NativeAmerican	Sub	1260	C=0.8849	T=0.1151
The PAGE Study	SouthAsian	Sub	856	C=0.787	T=0.213
14KJPN	JAPANESE	Study-wide	28258	C=0.66841	T=0.33159
8.3KJPN	JAPANESE	Study-wide	16758	C=0.66989	T=0.33011
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.92957	T=0.07043
GO Exome Sequencing Project	European American	Sub	8600	C=0.9076	T=0.0924
GO Exome Sequencing Project	African American	Sub	4406	C=0.9725	T=0.0275
1000Genomes_30x	Global	Study-wide	6404	C=0.8618	T=0.1382
1000Genomes_30x	African	Sub	1786	C=0.9882	T=0.0118
1000Genomes_30x	Europe	Sub	1266	C=0.8878	T=0.1122
1000Genomes_30x	South Asian	Sub	1202	C=0.7654	T=0.2346
1000Genomes_30x	East Asian	Sub	1170	C=0.7573	T=0.2427
1000Genomes_30x	American	Sub	980	C=0.841	T=0.159
1000Genomes	Global	Study-wide	5008	C=0.8582	T=0.1418
1000Genomes	African	Sub	1322	C=0.9871	T=0.0129
1000Genomes	East Asian	Sub	1008	C=0.7530	T=0.2470
1000Genomes	Europe	Sub	1006	C=0.8887	T=0.1113
1000Genomes	South Asian	Sub	978	C=0.770	T=0.230
1000Genomes	American	Sub	694	C=0.846	T=0.154
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8924	T=0.1076
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8962	T=0.1038
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8916	T=0.1084
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6608	T=0.3392
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.8287	T=0.1713
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.674	T=0.326
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.809	T=0.191
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.909	T=0.091
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.891	T=0.109
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.996	T=0.004
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.796	T=0.204
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.82	T=0.18
Korean Genome Project	KOREAN	Study-wide	1832	C=0.6665	T=0.3335
HapMap	Global	Study-wide	1712	C=0.8744	T=0.1256
HapMap	American	Sub	770	C=0.840	T=0.160
HapMap	African	Sub	512	C=0.988	T=0.012
HapMap	Asian	Sub	254	C=0.705	T=0.295
HapMap	Europe	Sub	176	C=0.938	T=0.062
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.896	T=0.104
CNV burdens in cranial meningiomas	Global	Study-wide	786	C=0.702	T=0.298
CNV burdens in cranial meningiomas	CRM	Sub	786	C=0.702	T=0.298
Chileans	Chilean	Study-wide	626	C=0.899	T=0.101
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.795	T=0.205
Northern Sweden	ACPOP	Study-wide	600	C=0.865	T=0.135
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.901	T=0.099
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.803	T=0.197
Qatari	Global	Study-wide	216	C=0.949	T=0.051
SGDP_PRJ	Global	Study-wide	176	C=0.449	T=0.551
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	84	C=0.79	T=0.21
The Danish reference pan genome	Danish	Study-wide	40	C=0.97	T=0.03
Siberian	Global	Study-wide	24	C=0.46	T=0.54

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 7	NC_000007.14:g.55201223C>G
GRCh38.p14 chr 7	NC_000007.14:g.55201223C>T
GRCh37.p13 chr 7	NC_000007.13:g.55268916C>G
GRCh37.p13 chr 7	NC_000007.13:g.55268916C>T
EGFR RefSeqGene (LRG_304)	NG_007726.3:g.187192C>G
EGFR RefSeqGene (LRG_304)	NG_007726.3:g.187192C>T

Gene: EGFR, epidermal growth factor receptor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EGFR transcript variant 2	NM_201282.2:c.	N/A	Genic Downstream Transcript Variant
EGFR transcript variant 3	NM_201283.2:c.	N/A	Genic Downstream Transcript Variant
EGFR transcript variant 4	NM_201284.2:c.	N/A	Genic Downstream Transcript Variant
EGFR transcript variant 1	NM_005228.5:c.2982C>G	D [GAC] > E [GAG]	Coding Sequence Variant
epidermal growth factor receptor isoform a precursor	NP_005219.2:p.Asp994Glu	D (Asp) > E (Glu)	Missense Variant
EGFR transcript variant 1	NM_005228.5:c.2982C>T	D [GAC] > D [GAT]	Coding Sequence Variant
epidermal growth factor receptor isoform a precursor	NP_005219.2:p.Asp994=	D (Asp) > D (Asp)	Synonymous Variant
EGFR transcript variant 6	NM_001346898.2:c.2982C>G	D [GAC] > E [GAG]	Coding Sequence Variant
epidermal growth factor receptor isoform f precursor	NP_001333827.1:p.Asp994Glu	D (Asp) > E (Glu)	Missense Variant
EGFR transcript variant 6	NM_001346898.2:c.2982C>T	D [GAC] > D [GAT]	Coding Sequence Variant
epidermal growth factor receptor isoform f precursor	NP_001333827.1:p.Asp994=	D (Asp) > D (Asp)	Synonymous Variant
EGFR transcript variant EGFRvIII	NM_001346941.2:c.2181C>G	D [GAC] > E [GAG]	Coding Sequence Variant
epidermal growth factor receptor isoform i precursor	NP_001333870.1:p.Asp727Glu	D (Asp) > E (Glu)	Missense Variant
EGFR transcript variant EGFRvIII	NM_001346941.2:c.2181C>T	D [GAC] > D [GAT]	Coding Sequence Variant
epidermal growth factor receptor isoform i precursor	NP_001333870.1:p.Asp727=	D (Asp) > D (Asp)	Synonymous Variant
EGFR transcript variant 8	NM_001346900.2:c.2823C>G	D [GAC] > E [GAG]	Coding Sequence Variant
epidermal growth factor receptor isoform h	NP_001333829.1:p.Asp941Glu	D (Asp) > E (Glu)	Missense Variant
EGFR transcript variant 8	NM_001346900.2:c.2823C>T	D [GAC] > D [GAT]	Coding Sequence Variant
epidermal growth factor receptor isoform h	NP_001333829.1:p.Asp941=	D (Asp) > D (Asp)	Synonymous Variant
EGFR transcript variant 5	NM_001346897.2:c.2847C>G	D [GAC] > E [GAG]	Coding Sequence Variant
epidermal growth factor receptor isoform e precursor	NP_001333826.1:p.Asp949Glu	D (Asp) > E (Glu)	Missense Variant
EGFR transcript variant 5	NM_001346897.2:c.2847C>T	D [GAC] > D [GAT]	Coding Sequence Variant
epidermal growth factor receptor isoform e precursor	NP_001333826.1:p.Asp949=	D (Asp) > D (Asp)	Synonymous Variant
EGFR transcript variant 7	NM_001346899.2:c.2847C>G	D [GAC] > E [GAG]	Coding Sequence Variant
epidermal growth factor receptor isoform g precursor	NP_001333828.1:p.Asp949Glu	D (Asp) > E (Glu)	Missense Variant
EGFR transcript variant 7	NM_001346899.2:c.2847C>T	D [GAC] > D [GAT]	Coding Sequence Variant
epidermal growth factor receptor isoform g precursor	NP_001333828.1:p.Asp949=	D (Asp) > D (Asp)	Synonymous Variant
EGFR transcript variant X1	XM_047419952.1:c.2823C>G	D [GAC] > E [GAG]	Coding Sequence Variant
epidermal growth factor receptor isoform X1	XP_047275908.1:p.Asp941Glu	D (Asp) > E (Glu)	Missense Variant
EGFR transcript variant X1	XM_047419952.1:c.2823C>T	D [GAC] > D [GAT]	Coding Sequence Variant
epidermal growth factor receptor isoform X1	XP_047275908.1:p.Asp941=	D (Asp) > D (Asp)	Synonymous Variant
EGFR transcript variant X2	XM_047419953.1:c.2823C>G	D [GAC] > E [GAG]	Coding Sequence Variant
epidermal growth factor receptor isoform X1	XP_047275909.1:p.Asp941Glu	D (Asp) > E (Glu)	Missense Variant
EGFR transcript variant X2	XM_047419953.1:c.2823C>T	D [GAC] > D [GAT]	Coding Sequence Variant
epidermal growth factor receptor isoform X1	XP_047275909.1:p.Asp941=	D (Asp) > D (Asp)	Synonymous Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 252903 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000248744.1	not specified	Benign
RCV001510928.4	EGFR-related lung cancer	Benign
RCV001709543.1	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	G	T
GRCh38.p14 chr 7	NC_000007.14:g.55201223=	NC_000007.14:g.55201223C>G	NC_000007.14:g.55201223C>T
GRCh37.p13 chr 7	NC_000007.13:g.55268916=	NC_000007.13:g.55268916C>G	NC_000007.13:g.55268916C>T
EGFR RefSeqGene (LRG_304)	NG_007726.3:g.187192=	NG_007726.3:g.187192C>G	NG_007726.3:g.187192C>T
EGFR transcript variant 1	NM_005228.5:c.2982=	NM_005228.5:c.2982C>G	NM_005228.5:c.2982C>T
EGFR transcript variant 1	NM_005228.4:c.2982=	NM_005228.4:c.2982C>G	NM_005228.4:c.2982C>T
EGFR transcript variant 1	NM_005228.3:c.2982=	NM_005228.3:c.2982C>G	NM_005228.3:c.2982C>T
EGFR transcript variant 7	NM_001346899.2:c.2847=	NM_001346899.2:c.2847C>G	NM_001346899.2:c.2847C>T
EGFR transcript variant 7	NM_001346899.1:c.2847=	NM_001346899.1:c.2847C>G	NM_001346899.1:c.2847C>T
EGFR transcript variant 8	NM_001346900.2:c.2823=	NM_001346900.2:c.2823C>G	NM_001346900.2:c.2823C>T
EGFR transcript variant 8	NM_001346900.1:c.2823=	NM_001346900.1:c.2823C>G	NM_001346900.1:c.2823C>T
EGFR transcript variant EGFRvIII	NM_001346941.2:c.2181=	NM_001346941.2:c.2181C>G	NM_001346941.2:c.2181C>T
EGFR transcript variant EGFRvIII	NM_001346941.1:c.2181=	NM_001346941.1:c.2181C>G	NM_001346941.1:c.2181C>T
EGFR transcript variant 6	NM_001346898.2:c.2982=	NM_001346898.2:c.2982C>G	NM_001346898.2:c.2982C>T
EGFR transcript variant 6	NM_001346898.1:c.2982=	NM_001346898.1:c.2982C>G	NM_001346898.1:c.2982C>T
EGFR transcript variant 5	NM_001346897.2:c.2847=	NM_001346897.2:c.2847C>G	NM_001346897.2:c.2847C>T
EGFR transcript variant 5	NM_001346897.1:c.2847=	NM_001346897.1:c.2847C>G	NM_001346897.1:c.2847C>T
EGFR transcript variant X1	XM_047419952.1:c.2823=	XM_047419952.1:c.2823C>G	XM_047419952.1:c.2823C>T
EGFR transcript variant X2	XM_047419953.1:c.2823=	XM_047419953.1:c.2823C>G	XM_047419953.1:c.2823C>T
epidermal growth factor receptor isoform a precursor	NP_005219.2:p.Asp994=	NP_005219.2:p.Asp994Glu	NP_005219.2:p.Asp994=
epidermal growth factor receptor isoform g precursor	NP_001333828.1:p.Asp949=	NP_001333828.1:p.Asp949Glu	NP_001333828.1:p.Asp949=
epidermal growth factor receptor isoform h	NP_001333829.1:p.Asp941=	NP_001333829.1:p.Asp941Glu	NP_001333829.1:p.Asp941=
epidermal growth factor receptor isoform i precursor	NP_001333870.1:p.Asp727=	NP_001333870.1:p.Asp727Glu	NP_001333870.1:p.Asp727=
epidermal growth factor receptor isoform f precursor	NP_001333827.1:p.Asp994=	NP_001333827.1:p.Asp994Glu	NP_001333827.1:p.Asp994=
epidermal growth factor receptor isoform e precursor	NP_001333826.1:p.Asp949=	NP_001333826.1:p.Asp949Glu	NP_001333826.1:p.Asp949=
epidermal growth factor receptor isoform X1	XP_047275908.1:p.Asp941=	XP_047275908.1:p.Asp941Glu	XP_047275908.1:p.Asp941=
epidermal growth factor receptor isoform X1	XP_047275909.1:p.Asp941=	XP_047275909.1:p.Asp941Glu	XP_047275909.1:p.Asp941=

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

156 SubSNP, 30 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3236359	Sep 28, 2001 (100)
2	SC_SNP	ss14749365	Dec 05, 2003 (120)
3	PERLEGEN	ss24018399	Sep 20, 2004 (123)
4	EGP_SNPS	ss24779036	Sep 20, 2004 (126)
5	SI_EXO	ss52075255	Oct 13, 2006 (127)
6	ILLUMINA	ss65741731	Oct 13, 2006 (127)
7	AFFY	ss66074171	Nov 29, 2006 (127)
8	ILLUMINA	ss66806728	Nov 29, 2006 (127)
9	EGP_SNPS	ss66861671	Nov 29, 2006 (127)
10	ILLUMINA	ss67243503	Nov 29, 2006 (127)
11	ILLUMINA	ss67640364	Nov 29, 2006 (127)
12	ILLUMINA	ss70721844	May 26, 2008 (130)
13	ILLUMINA	ss71290285	May 16, 2007 (127)
14	CANCER-GENOME	ss74802383	Dec 07, 2007 (129)
15	ILLUMINA	ss75852465	Dec 07, 2007 (129)
16	AFFY	ss76007561	Dec 09, 2007 (130)
17	CGM_KYOTO	ss76866724	Dec 07, 2007 (129)
18	ILLUMINA	ss79127551	Dec 16, 2007 (130)
19	KRIBB_YJKIM	ss84025564	Dec 16, 2007 (130)
20	CORNELL	ss86239762	Mar 23, 2008 (129)
21	CNG	ss95210613	Mar 25, 2008 (129)
22	SNP500CANCER	ss105434890	Feb 06, 2009 (130)
23	1000GENOMES	ss112044549	Jan 25, 2009 (130)
24	ILLUMINA	ss121991282	Dec 01, 2009 (131)
25	ILLUMINA	ss153900756	Dec 01, 2009 (131)
26	GMI	ss154833131	Dec 01, 2009 (131)
27	ILLUMINA	ss159378572	Dec 01, 2009 (131)
28	SEATTLESEQ	ss159714802	Dec 01, 2009 (131)
29	ILLUMINA	ss160531266	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss166625559	Jul 04, 2010 (132)
31	AFFY	ss170329442	Jul 04, 2010 (132)
32	ILLUMINA	ss171171634	Jul 04, 2010 (132)
33	ILLUMINA	ss173263284	Jul 04, 2010 (132)
34	1000GENOMES	ss233988857	Jul 15, 2010 (132)
35	1000GENOMES	ss240940159	Jul 15, 2010 (132)
36	ILLUMINA	ss244289566	Jul 04, 2010 (132)
37	GMI	ss279318809	May 04, 2012 (137)
38	PJP	ss293873753	May 09, 2011 (134)
39	NHLBI-ESP	ss342235825	May 09, 2011 (134)
40	ILLUMINA	ss480515396	May 04, 2012 (137)
41	ILLUMINA	ss480529632	May 04, 2012 (137)
42	ILLUMINA	ss481339454	Sep 08, 2015 (146)
43	ILLUMINA	ss485055077	May 04, 2012 (137)
44	1000GENOMES	ss490945950	May 04, 2012 (137)
45	CLINSEQ_SNP	ss491906502	May 04, 2012 (137)
46	ILLUMINA	ss537072231	Sep 08, 2015 (146)
47	SSMP	ss654384043	Apr 25, 2013 (138)
48	ILLUMINA	ss778863997	Sep 08, 2015 (146)
49	ILLUMINA	ss782973751	Sep 08, 2015 (146)
50	ILLUMINA	ss783935095	Sep 08, 2015 (146)
51	ILLUMINA	ss825458069	Apr 01, 2015 (144)
52	ILLUMINA	ss832230120	Sep 08, 2015 (146)
53	ILLUMINA	ss832890368	Jul 13, 2019 (153)
54	ILLUMINA	ss834324821	Sep 08, 2015 (146)
55	EVA-GONL	ss984303324	Aug 21, 2014 (142)
56	JMKIDD_LAB	ss1067488417	Aug 21, 2014 (142)
57	JMKIDD_LAB	ss1074630988	Aug 21, 2014 (142)
58	1000GENOMES	ss1325218614	Aug 21, 2014 (142)
59	EVA_GENOME_DK	ss1582214097	Apr 01, 2015 (144)
60	EVA_FINRISK	ss1584052636	Apr 01, 2015 (144)
61	EVA_DECODE	ss1593883993	Apr 01, 2015 (144)
62	EVA_UK10K_ALSPAC	ss1618262894	Apr 01, 2015 (144)
63	EVA_UK10K_TWINSUK	ss1661256927	Apr 01, 2015 (144)
64	EVA_EXAC	ss1688745885	Apr 01, 2015 (144)
65	EVA_MGP	ss1711163758	Apr 01, 2015 (144)
66	EVA_SVP	ss1712957640	Apr 01, 2015 (144)
67	ILLUMINA	ss1752690747	Sep 08, 2015 (146)
68	WEILL_CORNELL_DGM	ss1927546905	Feb 12, 2016 (147)
69	ILLUMINA	ss1959014479	Feb 12, 2016 (147)
70	JJLAB	ss2024460250	Sep 14, 2016 (149)
71	USC_VALOUEV	ss2152656040	Dec 20, 2016 (150)
72	HUMAN_LONGEVITY	ss2294218916	Dec 20, 2016 (150)
73	SYSTEMSBIOZJU	ss2626717410	Nov 08, 2017 (151)
74	ILLUMINA	ss2634609921	Nov 08, 2017 (151)
75	ILLUMINA	ss2635172913	Nov 08, 2017 (151)
76	GRF	ss2708323135	Nov 08, 2017 (151)
77	GNOMAD	ss2736449593	Nov 08, 2017 (151)
78	GNOMAD	ss2747825672	Nov 08, 2017 (151)
79	GNOMAD	ss2853379279	Nov 08, 2017 (151)
80	SWEGEN	ss3001153119	Nov 08, 2017 (151)
81	ILLUMINA	ss3022737633	Nov 08, 2017 (151)
82	BIOINF_KMB_FNS_UNIBA	ss3026026477	Nov 08, 2017 (151)
83	CSHL	ss3347597700	Nov 08, 2017 (151)
84	ILLUMINA	ss3629823468	Oct 12, 2018 (152)
85	ILLUMINA	ss3632517175	Oct 12, 2018 (152)
86	ILLUMINA	ss3633464385	Oct 12, 2018 (152)
87	ILLUMINA	ss3634189346	Oct 12, 2018 (152)
88	ILLUMINA	ss3635122848	Oct 12, 2018 (152)
89	ILLUMINA	ss3635869146	Oct 12, 2018 (152)
90	ILLUMINA	ss3636855060	Oct 12, 2018 (152)
91	ILLUMINA	ss3637622115	Oct 12, 2018 (152)
92	ILLUMINA	ss3638699279	Oct 12, 2018 (152)
93	ILLUMINA	ss3639352448	Oct 12, 2018 (152)
94	ILLUMINA	ss3639704270	Oct 12, 2018 (152)
95	ILLUMINA	ss3640830141	Oct 12, 2018 (152)
96	ILLUMINA	ss3643634850	Oct 12, 2018 (152)
97	OMUKHERJEE_ADBS	ss3646352985	Oct 12, 2018 (152)
98	ILLUMINA	ss3653270190	Oct 12, 2018 (152)
99	EGCUT_WGS	ss3669078874	Jul 13, 2019 (153)
100	EVA_DECODE	ss3719738265	Jul 13, 2019 (153)
101	ILLUMINA	ss3726446867	Jul 13, 2019 (153)
102	ACPOP	ss3734653690	Jul 13, 2019 (153)
103	ILLUMINA	ss3745422894	Jul 13, 2019 (153)
104	EVA	ss3766593891	Jul 13, 2019 (153)
105	PAGE_CC	ss3771372302	Jul 13, 2019 (153)
106	ILLUMINA	ss3772915819	Jul 13, 2019 (153)
107	PACBIO	ss3785824333	Jul 13, 2019 (153)
108	PACBIO	ss3791125624	Jul 13, 2019 (153)
109	PACBIO	ss3796005604	Jul 13, 2019 (153)
110	KHV_HUMAN_GENOMES	ss3809753551	Jul 13, 2019 (153)
111	EVA	ss3824277209	Apr 26, 2020 (154)
112	EVA	ss3825720185	Apr 26, 2020 (154)
113	EVA	ss3830585851	Apr 26, 2020 (154)
114	HGDP	ss3847878072	Apr 26, 2020 (154)
115	SGDP_PRJ	ss3867318343	Apr 26, 2020 (154)
116	KRGDB	ss3914396887	Apr 26, 2020 (154)
117	KOGIC	ss3961507987	Apr 26, 2020 (154)
118	FSA-LAB	ss3984367638	Apr 26, 2021 (155)
119	FSA-LAB	ss3984367639	Apr 26, 2021 (155)
120	EVA	ss3984588815	Apr 26, 2021 (155)
121	EVA	ss3985298642	Apr 26, 2021 (155)
122	EVA	ss3986039619	Apr 26, 2021 (155)
123	EVA	ss3986382904	Apr 26, 2021 (155)
124	EVA	ss4017337788	Apr 26, 2021 (155)
125	TOPMED	ss4746727899	Apr 26, 2021 (155)
126	TOMMO_GENOMICS	ss5183241217	Apr 26, 2021 (155)
127	CPQ_GEN_INCA	ss5236855150	Apr 26, 2021 (155)
128	CPQ_GEN_INCA	ss5236861054	Apr 26, 2021 (155)
129	EVA	ss5237033467	Apr 26, 2021 (155)
130	EVA	ss5237649204	Oct 14, 2022 (156)
131	1000G_HIGH_COVERAGE	ss5272953628	Oct 14, 2022 (156)
132	TRAN_CS_UWATERLOO	ss5314419763	Oct 14, 2022 (156)
133	EVA	ss5315250631	Oct 14, 2022 (156)
134	EVA	ss5373701281	Oct 14, 2022 (156)
135	HUGCELL_USP	ss5470118114	Oct 14, 2022 (156)
136	EVA	ss5508972104	Oct 14, 2022 (156)
137	1000G_HIGH_COVERAGE	ss5561166260	Oct 14, 2022 (156)
138	EVA	ss5623892176	Oct 14, 2022 (156)
139	EVA	ss5623940244	Oct 14, 2022 (156)
140	EVA	ss5624166846	Oct 14, 2022 (156)
141	SANFORD_IMAGENETICS	ss5624664178	Oct 14, 2022 (156)
142	SANFORD_IMAGENETICS	ss5642997280	Oct 14, 2022 (156)
143	TOMMO_GENOMICS	ss5723102421	Oct 14, 2022 (156)
144	EVA	ss5799431700	Oct 14, 2022 (156)
145	EVA	ss5799725819	Oct 14, 2022 (156)
146	YY_MCH	ss5808622814	Oct 14, 2022 (156)
147	EVA	ss5822855554	Oct 14, 2022 (156)
148	GDLABSOGANGLF	ss5847150680	Oct 14, 2022 (156)
149	EVA	ss5847318949	Oct 14, 2022 (156)
150	EVA	ss5848139209	Oct 14, 2022 (156)
151	EVA	ss5848682764	Oct 14, 2022 (156)
152	EVA	ss5855906104	Oct 14, 2022 (156)
153	EVA	ss5858997782	Oct 14, 2022 (156)
154	EVA	ss5935867840	Oct 14, 2022 (156)
155	EVA	ss5972218617	Oct 14, 2022 (156)
156	EVA	ss5979827604	Oct 14, 2022 (156)
157	1000Genomes	NC_000007.13 - 55268916	Oct 12, 2018 (152)
158	1000Genomes_30x	NC_000007.14 - 55201223	Oct 14, 2022 (156)
159	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 55268916	Oct 12, 2018 (152)
160	Chileans	NC_000007.13 - 55268916	Apr 26, 2020 (154)
161	Genetic variation in the Estonian population	NC_000007.13 - 55268916	Oct 12, 2018 (152)
162	ExAC	NC_000007.13 - 55268916	Oct 12, 2018 (152)
163	FINRISK	NC_000007.13 - 55268916	Apr 26, 2020 (154)
164	The Danish reference pan genome	NC_000007.13 - 55268916	Apr 26, 2020 (154)
165	gnomAD - Genomes	NC_000007.14 - 55201223	Apr 26, 2021 (155)
166	gnomAD - Exomes	NC_000007.13 - 55268916	Jul 13, 2019 (153)
167	GO Exome Sequencing Project	NC_000007.13 - 55268916	Oct 12, 2018 (152)
168	Genome of the Netherlands Release 5	NC_000007.13 - 55268916	Apr 26, 2020 (154)
169	HGDP-CEPH-db Supplement 1	NC_000007.12 - 55236410	Apr 26, 2020 (154)
170	HapMap	NC_000007.14 - 55201223	Apr 26, 2020 (154)
171	KOREAN population from KRGDB	NC_000007.13 - 55268916	Apr 26, 2020 (154)
172	Korean Genome Project	NC_000007.14 - 55201223	Apr 26, 2020 (154)
173	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 55268916	Apr 26, 2020 (154)
174	Northern Sweden	NC_000007.13 - 55268916	Jul 13, 2019 (153)
175	The PAGE Study	NC_000007.14 - 55201223	Jul 13, 2019 (153)
176	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 55268916	Apr 26, 2021 (155)
177	CNV burdens in cranial meningiomas	NC_000007.13 - 55268916	Apr 26, 2021 (155)
178	Qatari	NC_000007.13 - 55268916	Apr 26, 2020 (154)
179	SGDP_PRJ	NC_000007.13 - 55268916	Apr 26, 2020 (154)
180	Siberian	NC_000007.13 - 55268916	Apr 26, 2020 (154)
181	8.3KJPN	NC_000007.13 - 55268916	Apr 26, 2021 (155)
182	14KJPN	NC_000007.14 - 55201223	Oct 14, 2022 (156)
183	TopMed	NC_000007.14 - 55201223	Apr 26, 2021 (155)
184	UK 10K study - Twins	NC_000007.13 - 55268916	Oct 12, 2018 (152)
185	A Vietnamese Genetic Variation Database	NC_000007.13 - 55268916	Jul 13, 2019 (153)
186	ALFA	NC_000007.14 - 55201223	Apr 26, 2021 (155)
187	ClinVar	RCV000248744.1	Oct 12, 2018 (152)
188	ClinVar	RCV001510928.4	Oct 14, 2022 (156)
189	ClinVar	RCV001709543.1	Oct 14, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs10435501	Feb 27, 2004 (120)
rs17337472	Mar 11, 2006 (126)
rs56649858	May 26, 2008 (130)
rs61150996	May 26, 2008 (130)
rs386564009	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5935867840	NC_000007.13:55268915:C:G	NC_000007.14:55201222:C:G
ss3639352448, ss3639704270	NC_000007.11:55043124:C:T	NC_000007.14:55201222:C:T	(self)
555964, ss66074171, ss76007561, ss112044549, ss166625559, ss170329442, ss279318809, ss293873753, ss480515396, ss491906502, ss825458069, ss1593883993, ss1712957640, ss2635172913, ss3643634850, ss3847878072	NC_000007.12:55236409:C:T	NC_000007.14:55201222:C:T	(self)
37191075, 20744356, 410380, 14817122, 8811877, 49097, 8379036, 5611632, 735174, 9253102, 21574281, 279518, 7938555, 524569, 138237, 9588835, 19335323, 5172394, 41210524, 20744356, 4625432, ss233988857, ss240940159, ss342235825, ss480529632, ss481339454, ss485055077, ss490945950, ss537072231, ss654384043, ss778863997, ss782973751, ss783935095, ss832230120, ss832890368, ss834324821, ss984303324, ss1067488417, ss1074630988, ss1325218614, ss1582214097, ss1584052636, ss1618262894, ss1661256927, ss1688745885, ss1711163758, ss1752690747, ss1927546905, ss1959014479, ss2024460250, ss2152656040, ss2626717410, ss2634609921, ss2708323135, ss2736449593, ss2747825672, ss2853379279, ss3001153119, ss3022737633, ss3347597700, ss3629823468, ss3632517175, ss3633464385, ss3634189346, ss3635122848, ss3635869146, ss3636855060, ss3637622115, ss3638699279, ss3640830141, ss3646352985, ss3653270190, ss3669078874, ss3734653690, ss3745422894, ss3766593891, ss3772915819, ss3785824333, ss3791125624, ss3796005604, ss3824277209, ss3825720185, ss3830585851, ss3867318343, ss3914396887, ss3984367638, ss3984367639, ss3984588815, ss3985298642, ss3986039619, ss3986382904, ss4017337788, ss5183241217, ss5236855150, ss5236861054, ss5315250631, ss5373701281, ss5508972104, ss5623892176, ss5623940244, ss5624166846, ss5624664178, ss5642997280, ss5799431700, ss5799725819, ss5822855554, ss5847150680, ss5847318949, ss5848139209, ss5848682764, ss5972218617, ss5979827604	NC_000007.13:55268915:C:T	NC_000007.14:55201222:C:T	(self)
RCV000248744.1, RCV001510928.4, RCV001709543.1, 48692195, 262088498, 3407170, 17885988, 593771, 56939525, 584105458, 4336989485, ss2294218916, ss3026026477, ss3719738265, ss3726446867, ss3771372302, ss3809753551, ss3961507987, ss4746727899, ss5237033467, ss5237649204, ss5272953628, ss5314419763, ss5470118114, ss5561166260, ss5723102421, ss5808622814, ss5855906104, ss5858997782	NC_000007.14:55201222:C:T	NC_000007.14:55201222:C:T	(self)
ss14749365, ss52075255	NT_033968.5:4858284:C:T	NC_000007.14:55201222:C:T	(self)
ss3236359, ss24018399, ss24779036, ss65741731, ss66806728, ss66861671, ss67243503, ss67640364, ss70721844, ss71290285, ss74802383, ss75852465, ss76866724, ss79127551, ss84025564, ss86239762, ss95210613, ss105434890, ss121991282, ss153900756, ss154833131, ss159378572, ss159714802, ss160531266, ss171171634, ss173263284, ss244289566	NT_033968.6:4858284:C:T	NC_000007.14:55201222:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

20 citations for rs2293347

PMID	Title	Author	Year	Journal
17956637	Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study.	Choi JE et al.	2007	BMC cancer
19190167	A two-stage case-control study of EGFR polymorphisms and breast cancer risk.	Hong YS et al.	2009	Cancer epidemiology, biomarkers & prevention
19201048	Polymorphisms of EGFR predict clinical outcome in advanced non-small-cell lung cancer patients treated with Gefitinib.	Ma F et al.	2009	Lung cancer (Amsterdam, Netherlands)
19372140	EGFR pathway polymorphisms and bladder cancer susceptibility and prognosis.	Mason RA et al.	2009	Carcinogenesis
19641380	Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans.	Park JW et al.	2009	Experimental & molecular medicine
21859544	[Effect of rs2293347 Polymorphism in EGFR on the Clinical Efficacy of Gefitinib  in Patients with Non-small Cell Lung Cancer].	Ma F et al.	2011	Zhongguo fei ai za zhi = Chinese journal of lung cancer
22552271	Integrated effect of EGFR and PAR-1 signaling crosstalk on airway hyperresponsiveness.	Yoshikawa T et al.	2012	International journal of molecular medicine
23313300	Role of EGFR SNPs in survival of advanced lung adenocarcinoma patients treated with Gefitinib.	Zhang L et al.	2013	Gene
23816762	Identification of a candidate single-nucleotide polymorphism related to chemotherapeutic response through a combination of knowledge-based algorithm and hypothesis-free genomic data.	Takahashi H et al.	2013	Journal of bioscience and bioengineering
25127363	Application of a combination of a knowledge-based algorithm and 2-stage screening to hypothesis-free genomic data on irinotecan-treated patients for identification of a candidate single nucleotide polymorphism related to an adverse effect.	Takahashi H et al.	2014	PloS one
25396734	Comprehensive analysis of the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with BMD in Caucasian women.	Zhou QH et al.	2014	PloS one
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
26475168	Construction of possible integrated predictive index based on EGFR and ANXA3 polymorphisms for chemotherapy response in fluoropyrimidine-treated Japanese gastric cancer patients using a bioinformatic method.	Takahashi H et al.	2015	BMC cancer
28043105	Association Study of Polymorphisms of Epidermal Growth Factor and Epidermal Growth Factor Receptor With Benign Prostatic Hyperplasia in a Korean Population.	Kim SK et al.	2016	International neurourology journal
30898568	EGFR Gene Polymorphism Predicts Improved Outcome in Patients With EGFR Mutation-positive Non-small cell Lung Cancer Treated With Erlotinib.	Winther-Larsen A et al.	2019	Clinical lung cancer
31518089	The EGFR rs2233947 polymorphism is associated with lung cancer risk: a study from Jordan.	Bashir NA et al.	2019	Acta biochimica Polonica
31681611	External Replication of Urinary Bladder Cancer Prognostic Polymorphisms in the UK Biobank.	Lipunova N et al.	2019	Frontiers in oncology
31906817	Association between epidermal growth factor (EGF) and EGF receptor gene polymorphisms and end-stage renal disease and acute renal allograft rejection in a Korean population.	Kim BW et al.	2020	Renal failure
32256580	EGFR Polymorphism and Survival of NSCLC Patients Treated with TKIs: A Systematic Review and Meta-Analysis.	Jurisic V et al.	2020	Journal of oncology
33680380	Role of EGFR gene polymorphisms in oral squamous cell carcinoma patients of Southeast Iran: A case-control study.	Saravani S et al.	2020	Caspian journal of internal medicine

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2293347