Name: rs712829
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.

rs712829

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:55019062 (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: G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.278832 (73804/264690, TOPMED)
T=0.04072 (1150/28240, 14KJPN)
T=0.04000 (670/16750, 8.3KJPN) (+ 14 more)
T=0.10920 (1230/11264, ALFA)
T=0.2264 (1134/5008, 1000G)
T=0.2750 (1231/4476, Estonian)
T=0.3246 (1251/3854, ALSPAC)
T=0.3042 (1128/3708, TWINSUK)
T=0.0397 (111/2796, KOREAN)
T=0.0358 (63/1762, Korea1K)
T=0.282 (169/600, NorthernSweden)
T=0.296 (162/548, PharmGKB)
T=0.398 (86/216, Qatari)
G=0.398 (70/176, SGDP_PRJ)
T=0.33 (13/40, GENOME_DK)
G=0.50 (10/20, Siberian)
T=0.50 (10/20, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: EGFR : 5 Prime UTR Variant
LOC105375284 : 2KB Upstream Variant
Publications: 17 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	11264	G=0.89080	C=0.00000, T=0.10920
European	Sub	8706	G=0.8591	C=0.0000, T=0.1409
African	Sub	1678	G=1.0000	C=0.0000, T=0.0000
African Others	Sub	74	G=1.00	C=0.00, T=0.00
African American	Sub	1604	G=1.0000	C=0.0000, T=0.0000
Asian	Sub	100	G=1.00	C=0.00, T=0.00
East Asian	Sub	78	G=1.00	C=0.00, T=0.00
Other Asian	Sub	22	G=1.00	C=0.00, T=0.00
Latin American 1	Sub	62	G=1.00	C=0.00, T=0.00
Latin American 2	Sub	392	G=1.000	C=0.000, T=0.000
South Asian	Sub	56	G=1.00	C=0.00, T=0.00
Other	Sub	270	G=0.989	C=0.000, T=0.011

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	G=0.721168	T=0.278832
14KJPN	JAPANESE	Study-wide	28240	G=0.95928	T=0.04072
8.3KJPN	JAPANESE	Study-wide	16750	G=0.96000	T=0.04000
Allele Frequency Aggregator	Total	Global	11264	G=0.89080	C=0.00000, T=0.10920
Allele Frequency Aggregator	European	Sub	8706	G=0.8591	C=0.0000, T=0.1409
Allele Frequency Aggregator	African	Sub	1678	G=1.0000	C=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	392	G=1.000	C=0.000, T=0.000
Allele Frequency Aggregator	Other	Sub	270	G=0.989	C=0.000, T=0.011
Allele Frequency Aggregator	Asian	Sub	100	G=1.00	C=0.00, T=0.00
Allele Frequency Aggregator	Latin American 1	Sub	62	G=1.00	C=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	56	G=1.00	C=0.00, T=0.00
1000Genomes	Global	Study-wide	5008	G=0.7736	T=0.2264
1000Genomes	African	Sub	1322	G=0.7549	T=0.2451
1000Genomes	East Asian	Sub	1008	G=0.9415	T=0.0585
1000Genomes	Europe	Sub	1006	G=0.6899	T=0.3101
1000Genomes	South Asian	Sub	978	G=0.699	T=0.301
1000Genomes	American	Sub	694	G=0.791	T=0.209
Genetic variation in the Estonian population	Estonian	Study-wide	4476	G=0.7250	T=0.2750
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6754	T=0.3246
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.6958	T=0.3042
KOREAN population from KRGDB	KOREAN	Study-wide	2796	G=0.9603	T=0.0397
Korean Genome Project	KOREAN	Study-wide	1762	G=0.9642	T=0.0358
Northern Sweden	ACPOP	Study-wide	600	G=0.718	T=0.282
PharmGKB Aggregated	Global	Study-wide	548	G=0.704	T=0.296
PharmGKB Aggregated	PA156031064	Sub	156	G=0.673	T=0.327
PharmGKB Aggregated	PA133885305	Sub	138	G=0.768	T=0.232
PharmGKB Aggregated	PA133886766	Sub	138	G=0.768	T=0.232
PharmGKB Aggregated	PA156070583	Sub	116	G=0.595	T=0.405
Qatari	Global	Study-wide	216	G=0.602	T=0.398
SGDP_PRJ	Global	Study-wide	176	G=0.398	T=0.602
The Danish reference pan genome	Danish	Study-wide	40	G=0.68	T=0.33
Siberian	Global	Study-wide	20	G=0.50	T=0.50

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.55019062G>C
GRCh38.p14 chr 7	NC_000007.14:g.55019062G>T
GRCh37.p13 chr 7	NC_000007.13:g.55086755G>C
GRCh37.p13 chr 7	NC_000007.13:g.55086755G>T
EGFR RefSeqGene (LRG_304)	NG_007726.3:g.5031G>C
EGFR RefSeqGene (LRG_304)	NG_007726.3:g.5031G>T

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

Molecule type	Change	Amino acid[Codon]	SO Term
EGFR transcript variant 1	NM_005228.5:c.-216=	N/A	5 Prime UTR Variant
EGFR transcript variant 6	NM_001346898.2:c.-216=	N/A	5 Prime UTR Variant
EGFR transcript variant EGFRvIII	NM_001346941.2:c.-216=	N/A	5 Prime UTR Variant
EGFR transcript variant 4	NM_201284.2:c.-216=	N/A	5 Prime UTR Variant
EGFR transcript variant 2	NM_201282.2:c.-216=	N/A	5 Prime UTR Variant
EGFR transcript variant 5	NM_001346897.2:c.-216=	N/A	5 Prime UTR Variant
EGFR transcript variant 7	NM_001346899.2:c.-216=	N/A	5 Prime UTR Variant
EGFR transcript variant 3	NM_201283.2:c.-216=	N/A	5 Prime UTR Variant
EGFR transcript variant 8	NM_001346900.2:c.	N/A	Genic Upstream Transcript Variant
EGFR transcript variant X1	XM_047419952.1:c.	N/A	Genic Upstream Transcript Variant
EGFR transcript variant X2	XM_047419953.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC105375284, uncharacterized LOC105375284 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105375284 transcript variant X3	XR_007060329.1:n.	N/A	Upstream Transcript Variant
LOC105375284 transcript variant X1	XR_007060328.1:n.	N/A	N/A
LOC105375284 transcript variant X2	XR_927272.3:n.	N/A	N/A

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: 303193 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001656223.2	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	G=	C	T
GRCh38.p14 chr 7	NC_000007.14:g.55019062=	NC_000007.14:g.55019062G>C	NC_000007.14:g.55019062G>T
GRCh37.p13 chr 7	NC_000007.13:g.55086755=	NC_000007.13:g.55086755G>C	NC_000007.13:g.55086755G>T
EGFR RefSeqGene (LRG_304)	NG_007726.3:g.5031=	NG_007726.3:g.5031G>C	NG_007726.3:g.5031G>T
EGFR transcript variant 1	NM_005228.5:c.-216=	NM_005228.5:c.-216G>C	NM_005228.5:c.-216G>T
EGFR transcript variant 1	NM_005228.4:c.-216=	NM_005228.4:c.-216G>C	NM_005228.4:c.-216G>T
EGFR transcript variant 1	NM_005228.3:c.-216=	NM_005228.3:c.-216G>C	NM_005228.3:c.-216G>T
EGFR transcript variant 7	NM_001346899.2:c.-216=	NM_001346899.2:c.-216G>C	NM_001346899.2:c.-216G>T
EGFR transcript variant 7	NM_001346899.1:c.-216=	NM_001346899.1:c.-216G>C	NM_001346899.1:c.-216G>T
EGFR transcript variant EGFRvIII	NM_001346941.2:c.-216=	NM_001346941.2:c.-216G>C	NM_001346941.2:c.-216G>T
EGFR transcript variant EGFRvIII	NM_001346941.1:c.-216=	NM_001346941.1:c.-216G>C	NM_001346941.1:c.-216G>T
EGFR transcript variant 6	NM_001346898.2:c.-216=	NM_001346898.2:c.-216G>C	NM_001346898.2:c.-216G>T
EGFR transcript variant 6	NM_001346898.1:c.-216=	NM_001346898.1:c.-216G>C	NM_001346898.1:c.-216G>T
EGFR transcript variant 5	NM_001346897.2:c.-216=	NM_001346897.2:c.-216G>C	NM_001346897.2:c.-216G>T
EGFR transcript variant 5	NM_001346897.1:c.-216=	NM_001346897.1:c.-216G>C	NM_001346897.1:c.-216G>T
EGFR transcript variant 4	NM_201284.2:c.-216=	NM_201284.2:c.-216G>C	NM_201284.2:c.-216G>T
EGFR transcript variant 4	NM_201284.1:c.-216=	NM_201284.1:c.-216G>C	NM_201284.1:c.-216G>T
EGFR transcript variant 2	NM_201282.2:c.-216=	NM_201282.2:c.-216G>C	NM_201282.2:c.-216G>T
EGFR transcript variant 2	NM_201282.1:c.-216=	NM_201282.1:c.-216G>C	NM_201282.1:c.-216G>T
EGFR transcript variant 3	NM_201283.2:c.-216=	NM_201283.2:c.-216G>C	NM_201283.2:c.-216G>T
EGFR transcript variant 3	NM_201283.1:c.-216=	NM_201283.1:c.-216G>C	NM_201283.1:c.-216G>T

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#.

58 SubSNP, 18 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss76412	Oct 04, 2000 (86)
2	LEE	ss1550730	Oct 04, 2000 (86)
3	SC_JCM	ss6026346	Feb 20, 2003 (111)
4	EGP_SNPS	ss24778532	Sep 20, 2004 (126)
5	ABI	ss42884772	Mar 10, 2006 (126)
6	PHARMGKB_PAAR-UCHI	ss69366397	May 18, 2007 (127)
7	PHARMGKB_PAAR-UCHI	ss69366408	May 18, 2007 (127)
8	PHARMGKB_PAAR-UCHI	ss105110072	Feb 04, 2009 (130)
9	PHARMGKB_PAAR-UCHI	ss105110077	Feb 04, 2009 (130)
10	COMPLETE_GENOMICS	ss162353835	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss208461409	Jul 04, 2010 (132)
12	1000GENOMES	ss233988294	Jul 15, 2010 (132)
13	SSMP	ss654383244	Apr 25, 2013 (138)
14	EVA-GONL	ss984301832	Aug 21, 2014 (142)
15	1000GENOMES	ss1325212973	Aug 21, 2014 (142)
16	EVA_GENOME_DK	ss1582213556	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1618259666	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1661253699	Apr 01, 2015 (144)
19	WEILL_CORNELL_DGM	ss1927545459	Feb 12, 2016 (147)
20	JJLAB	ss2024459443	Sep 14, 2016 (149)
21	USC_VALOUEV	ss2152655313	Dec 20, 2016 (150)
22	GNOMAD	ss2853364430	Nov 08, 2017 (151)
23	SWEGEN	ss3001151043	Nov 08, 2017 (151)
24	ILLUMINA	ss3022737487	Nov 08, 2017 (151)
25	BIOINF_KMB_FNS_UNIBA	ss3026026126	Nov 08, 2017 (151)
26	CSHL	ss3347597123	Nov 08, 2017 (151)
27	ILLUMINA	ss3653270030	Oct 12, 2018 (152)
28	EGCUT_WGS	ss3669076596	Jul 13, 2019 (153)
29	EVA_DECODE	ss3719735671	Jul 13, 2019 (153)
30	ACPOP	ss3734652529	Jul 13, 2019 (153)
31	EVA	ss3766592241	Jul 13, 2019 (153)
32	PACBIO	ss3785824095	Jul 13, 2019 (153)
33	PACBIO	ss3791125433	Jul 13, 2019 (153)
34	PACBIO	ss3796005415	Jul 13, 2019 (153)
35	KHV_HUMAN_GENOMES	ss3809752063	Jul 13, 2019 (153)
36	EVA	ss3825720143	Apr 26, 2020 (154)
37	EVA	ss3830585321	Apr 26, 2020 (154)
38	EVA	ss3838782863	Apr 26, 2020 (154)
39	EVA	ss3844235276	Apr 26, 2020 (154)
40	SGDP_PRJ	ss3867315512	Apr 26, 2020 (154)
41	KRGDB	ss3914394125	Apr 26, 2020 (154)
42	KOGIC	ss3961505419	Apr 26, 2020 (154)
43	FSA-LAB	ss3984367568	Apr 26, 2021 (155)
44	TOPMED	ss4746681160	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5183235704	Apr 26, 2021 (155)
46	EVA	ss5237421713	Apr 26, 2021 (155)
47	1000G_HIGH_COVERAGE	ss5272949109	Oct 14, 2022 (156)
48	EVA	ss5373691811	Oct 14, 2022 (156)
49	HUGCELL_USP	ss5470113903	Oct 14, 2022 (156)
50	HUGCELL_USP	ss5470113904	Oct 14, 2022 (156)
51	SANFORD_IMAGENETICS	ss5642994671	Oct 14, 2022 (156)
52	TOMMO_GENOMICS	ss5723095324	Oct 14, 2022 (156)
53	YY_MCH	ss5808621833	Oct 14, 2022 (156)
54	EVA	ss5822853701	Oct 14, 2022 (156)
55	EVA	ss5848139137	Oct 14, 2022 (156)
56	EVA	ss5855905616	Oct 14, 2022 (156)
57	EVA	ss5858992024	Oct 14, 2022 (156)
58	EVA	ss5972215632	Oct 14, 2022 (156)
59	1000Genomes	NC_000007.13 - 55086755	Oct 12, 2018 (152)
60	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 55086755	Oct 12, 2018 (152)
61	Genetic variation in the Estonian population	NC_000007.13 - 55086755	Oct 12, 2018 (152)
62	The Danish reference pan genome	NC_000007.13 - 55086755	Apr 26, 2020 (154)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 262051081 (NC_000007.14:55019061:G:C 1/139068) Row 262051083 (NC_000007.14:55019061:G:T 39709/139026)	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 262051081 (NC_000007.14:55019061:G:C 1/139068) Row 262051083 (NC_000007.14:55019061:G:T 39709/139026)	-	Apr 26, 2021 (155)
65	KOREAN population from KRGDB	NC_000007.13 - 55086755	Apr 26, 2020 (154)
66	Korean Genome Project	NC_000007.14 - 55019062	Apr 26, 2020 (154)
67	Northern Sweden	NC_000007.13 - 55086755	Jul 13, 2019 (153)
68	PharmGKB Aggregated	NC_000007.14 - 55019062	Apr 26, 2020 (154)
69	Qatari	NC_000007.13 - 55086755	Apr 26, 2020 (154)
70	SGDP_PRJ	NC_000007.13 - 55086755	Apr 26, 2020 (154)
71	Siberian	NC_000007.13 - 55086755	Apr 26, 2020 (154)
72	8.3KJPN	NC_000007.13 - 55086755	Apr 26, 2021 (155)
73	14KJPN	NC_000007.14 - 55019062	Oct 14, 2022 (156)
74	TopMed	NC_000007.14 - 55019062	Apr 26, 2021 (155)
75	UK 10K study - Twins	NC_000007.13 - 55086755	Oct 12, 2018 (152)
76	ALFA	NC_000007.14 - 55019062	Apr 26, 2021 (155)
77	ClinVar	RCV001656223.2	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)
rs17288931	Mar 10, 2006 (126)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2853364430	NC_000007.13:55086754:G:C	NC_000007.14:55019061:G:C	(self)
6790258865, ss5470113904	NC_000007.14:55019061:G:C	NC_000007.14:55019061:G:C	(self)
ss162353835, ss208461409	NC_000007.12:55054248:G:T	NC_000007.14:55019061:G:T	(self)
37185328, 20740922, 14814844, 8378495, 21571519, 7937394, 9587389, 19332492, 5171667, 41205011, 20740922, ss233988294, ss654383244, ss984301832, ss1325212973, ss1582213556, ss1618259666, ss1661253699, ss1927545459, ss2024459443, ss2152655313, ss2853364430, ss3001151043, ss3022737487, ss3347597123, ss3653270030, ss3669076596, ss3734652529, ss3766592241, ss3785824095, ss3791125433, ss3796005415, ss3825720143, ss3830585321, ss3838782863, ss3867315512, ss3914394125, ss3984367568, ss5183235704, ss5237421713, ss5373691811, ss5642994671, ss5822853701, ss5848139137, ss5972215632	NC_000007.13:55086754:G:T	NC_000007.14:55019061:G:T	(self)
RCV001656223.2, 17883420, 11283, 56932428, 584058719, 6790258865, ss3026026126, ss3719735671, ss3809752063, ss3844235276, ss3961505419, ss4746681160, ss5272949109, ss5470113903, ss5723095324, ss5808621833, ss5855905616, ss5858992024	NC_000007.14:55019061:G:T	NC_000007.14:55019061:G:T	(self)
ss76412, ss1550730, ss6026346, ss24778532, ss42884772, ss69366397, ss69366408, ss105110072, ss105110077	NT_033968.6:4676123:G:T	NC_000007.14:55019061:G:T	(self)

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

17 citations for rs712829

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
19102716	EGFR-targeted therapies in lung cancer: predictors of response and toxicity.	Heist RS et al.	2009	Pharmacogenomics
19190167	A two-stage case-control study of EGFR polymorphisms and breast cancer risk.	Hong YS et al.	2009	Cancer epidemiology, biomarkers & prevention
21292812	Functional EGFR germline polymorphisms may confer risk for EGFR somatic mutations in non-small cell lung cancer, with a predominant effect on exon 19 microdeletions.	Liu W et al.	2011	Cancer research
22486600	Multifactorial pharmacogenetic analysis in colorectal cancer patients receiving 5-fluorouracil-based therapy together with cetuximab-irinotecan.	Etienne-Grimaldi MC et al.	2012	British journal of clinical pharmacology
23927961	Genetic variations in EGFR and ERBB4 increase susceptibility to cervical cancer.	Ma D et al.	2013	Gynecologic oncology
23959273	Intergenic polymorphisms in the amphiregulin gene region as biomarkers in metastatic colorectal cancer patients treated with anti-EGFR plus irinotecan.	Sebio A et al.	2014	The pharmacogenomics journal
23962910	PharmGKB summary: very important pharmacogene information for the epidermal growth factor receptor.	Hodoglugil U et al.	2013	Pharmacogenetics and genomics
24819665	Epidermal growth factor receptor (EGFR) pathway genes and interstitial lung disease: an association study.	Li C et al.	2014	Scientific reports
26269114	Polymorphisms in epidermal growth factor receptor (EGFR) and AKT1 as possible predictors of clinical outcome in advanced non-small-cell lung cancer patients treated with EGFR tyrosine kinase inhibitors.	Zhang X et al.	2016	Tumour biology
27018053	Progression and metastasis of lung cancer.	Popper HH et al.	2016	Cancer metastasis reviews
27897268	Germline polymorphisms as biomarkers of tumor response in colorectal cancer patients treated with anti-EGFR monoclonal antibodies: a systematic review and meta-analysis.	Morgen EK et al.	2017	The pharmacogenomics journal
30011810	The Association between Epidermal Growth Factor Receptor (EGFR) Gene Polymorphisms and Lung Cancer Risk.	Bashir NA et al.	2018	Biomolecules
31254173	The Association between Epidermal Growth Factor Receptor Single Nucleotide Polymorphisms and Radiochemotherapy Response in Cervical Cancer.	Jin G et al.	2020	Pathology oncology research
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
32780457	Pharmacogenetics for severe adverse drug reactions induced by molecular-targeted therapy.	Udagawa C et al.	2020	Cancer science
34070597	Polymorphisms in EGFR Gene Predict Clinical Outcome in Unresectable Non-Small Cell Lung Cancer Treated with Radiotherapy and Platinum-Based Chemoradiotherapy.	Butkiewicz D et al.	2021	International journal of molecular sciences

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
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs712829