Name: rs4838998
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.

rs4838998

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:113727704 (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>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.261079 (69105/264690, TOPMED)
A=0.41342 (6929/16760, 8.3KJPN)
A=0.34843 (5246/15056, ALFA) (+ 11 more)
C=0.3157 (2022/6404, 1000G_30x)
C=0.3209 (1607/5008, 1000G)
C=0.2598 (1164/4480, Estonian)
A=0.3604 (1056/2930, KOREAN)
C=0.220 (220/998, GoNL)
C=0.237 (142/600, NorthernSweden)
C=0.224 (111/496, SGDP_PRJ)
C=0.315 (68/216, Qatari)
A=0.421 (90/214, Vietnamese)
C=0.20 (10/50, Siberian)
C=0.28 (11/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PHTF1 : Intron Variant
Publications: 0 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	15056	C=0.65157	A=0.34843, T=0.00000
European	Sub	14278	C=0.65289	A=0.34711, T=0.00000
African	Sub	218	C=0.486	A=0.514, T=0.000
African Others	Sub	10	C=0.5	A=0.5, T=0.0
African American	Sub	208	C=0.486	A=0.514, T=0.000
Asian	Sub	90	C=0.96	A=0.04, T=0.00
East Asian	Sub	86	C=0.98	A=0.02, T=0.00
Other Asian	Sub	4	C=0.5	A=0.5, T=0.0
Latin American 1	Sub	8	C=1.0	A=0.0, T=0.0
Latin American 2	Sub	130	C=1.000	A=0.000, T=0.000
South Asian	Sub	6	C=0.5	A=0.5, T=0.0
Other	Sub	326	C=0.475	A=0.525, T=0.000

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=0.261079	A=0.738921
8.3KJPN	JAPANESE	Study-wide	16760	C=0.58658	A=0.41342
Allele Frequency Aggregator	Total	Global	15056	C=0.65157	A=0.34843, T=0.00000
Allele Frequency Aggregator	European	Sub	14278	C=0.65289	A=0.34711, T=0.00000
Allele Frequency Aggregator	Other	Sub	326	C=0.475	A=0.525, T=0.000
Allele Frequency Aggregator	African	Sub	218	C=0.486	A=0.514, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	130	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	90	C=0.96	A=0.04, T=0.00
Allele Frequency Aggregator	Latin American 1	Sub	8	C=1.0	A=0.0, T=0.0
Allele Frequency Aggregator	South Asian	Sub	6	C=0.5	A=0.5, T=0.0
1000Genomes_30x	Global	Study-wide	6404	C=0.3157	A=0.6843
1000Genomes_30x	African	Sub	1786	C=0.1641	A=0.8359
1000Genomes_30x	Europe	Sub	1266	C=0.2591	A=0.7409
1000Genomes_30x	South Asian	Sub	1202	C=0.2246	A=0.7754
1000Genomes_30x	East Asian	Sub	1170	C=0.6103	A=0.3897
1000Genomes_30x	American	Sub	980	C=0.426	A=0.574
1000Genomes	Global	Study-wide	5008	C=0.3209	A=0.6791
1000Genomes	African	Sub	1322	C=0.1657	A=0.8343
1000Genomes	East Asian	Sub	1008	C=0.6042	A=0.3958
1000Genomes	Europe	Sub	1006	C=0.2594	A=0.7406
1000Genomes	South Asian	Sub	978	C=0.227	A=0.773
1000Genomes	American	Sub	694	C=0.427	A=0.573
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.2598	A=0.7402
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6389	A=0.3604, T=0.0007
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.220	A=0.780
Northern Sweden	ACPOP	Study-wide	600	C=0.237	A=0.763
SGDP_PRJ	Global	Study-wide	496	C=0.224	A=0.774, T=0.002
Qatari	Global	Study-wide	216	C=0.315	A=0.685
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.579	A=0.421
Siberian	Global	Study-wide	50	C=0.20	A=0.80
The Danish reference pan genome	Danish	Study-wide	40	C=0.28	A=0.72

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 1	NC_000001.11:g.113727704C>A
GRCh38.p14 chr 1	NC_000001.11:g.113727704C>T
GRCh37.p13 chr 1	NC_000001.10:g.114270326C>A
GRCh37.p13 chr 1	NC_000001.10:g.114270326C>T

Gene: PHTF1, putative homeodomain transcription factor 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PHTF1 transcript variant 2	NM_001323041.2:c.332-1130… NM_001323041.2:c.332-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 3	NM_001323042.2:c.332-1130… NM_001323042.2:c.332-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 4	NM_001323043.2:c.332-1130… NM_001323043.2:c.332-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 5	NM_001323044.2:c.206-1130… NM_001323044.2:c.206-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 6	NM_001323045.2:c.206-1130… NM_001323045.2:c.206-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 7	NM_001323046.2:c.-367-113… NM_001323046.2:c.-367-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 8	NM_001323047.2:c.332-1130… NM_001323047.2:c.332-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 9	NM_001323048.2:c.332-1130… NM_001323048.2:c.332-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 10	NM_001323049.2:c.332-1130… NM_001323049.2:c.332-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 11	NM_001323050.2:c.206-1130… NM_001323050.2:c.206-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 12	NM_001323051.2:c.206-1130… NM_001323051.2:c.206-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 13	NM_001323052.2:c.332-1130… NM_001323052.2:c.332-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 14	NM_001323053.2:c.332-1130… NM_001323053.2:c.332-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 1	NM_006608.3:c.332-1130G>T	N/A	Intron Variant
PHTF1 transcript variant 15	NR_136564.2:n.	N/A	Intron Variant
PHTF1 transcript variant 16	NR_136565.2:n.	N/A	Intron Variant
PHTF1 transcript variant 17	NR_136566.2:n.	N/A	Intron Variant
PHTF1 transcript variant 18	NR_136567.2:n.	N/A	Intron Variant
PHTF1 transcript variant 19	NR_136568.2:n.	N/A	Intron 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.

Not Reported in ClinVar

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=	A	T
GRCh38.p14 chr 1	NC_000001.11:g.113727704=	NC_000001.11:g.113727704C>A	NC_000001.11:g.113727704C>T
GRCh37.p13 chr 1	NC_000001.10:g.114270326=	NC_000001.10:g.114270326C>A	NC_000001.10:g.114270326C>T
PHTF1 transcript variant 2	NM_001323041.2:c.332-1130=	NM_001323041.2:c.332-1130G>T	NM_001323041.2:c.332-1130G>A
PHTF1 transcript variant 3	NM_001323042.2:c.332-1130=	NM_001323042.2:c.332-1130G>T	NM_001323042.2:c.332-1130G>A
PHTF1 transcript variant 4	NM_001323043.2:c.332-1130=	NM_001323043.2:c.332-1130G>T	NM_001323043.2:c.332-1130G>A
PHTF1 transcript variant 5	NM_001323044.2:c.206-1130=	NM_001323044.2:c.206-1130G>T	NM_001323044.2:c.206-1130G>A
PHTF1 transcript variant 6	NM_001323045.2:c.206-1130=	NM_001323045.2:c.206-1130G>T	NM_001323045.2:c.206-1130G>A
PHTF1 transcript variant 7	NM_001323046.2:c.-367-1130=	NM_001323046.2:c.-367-1130G>T	NM_001323046.2:c.-367-1130G>A
PHTF1 transcript variant 8	NM_001323047.2:c.332-1130=	NM_001323047.2:c.332-1130G>T	NM_001323047.2:c.332-1130G>A
PHTF1 transcript variant 9	NM_001323048.2:c.332-1130=	NM_001323048.2:c.332-1130G>T	NM_001323048.2:c.332-1130G>A
PHTF1 transcript variant 10	NM_001323049.2:c.332-1130=	NM_001323049.2:c.332-1130G>T	NM_001323049.2:c.332-1130G>A
PHTF1 transcript variant 11	NM_001323050.2:c.206-1130=	NM_001323050.2:c.206-1130G>T	NM_001323050.2:c.206-1130G>A
PHTF1 transcript variant 12	NM_001323051.2:c.206-1130=	NM_001323051.2:c.206-1130G>T	NM_001323051.2:c.206-1130G>A
PHTF1 transcript variant 13	NM_001323052.2:c.332-1130=	NM_001323052.2:c.332-1130G>T	NM_001323052.2:c.332-1130G>A
PHTF1 transcript variant 14	NM_001323053.2:c.332-1130=	NM_001323053.2:c.332-1130G>T	NM_001323053.2:c.332-1130G>A
PHTF1 transcript variant 1	NM_006608.2:c.332-1130=	NM_006608.2:c.332-1130G>T	NM_006608.2:c.332-1130G>A
PHTF1 transcript variant 1	NM_006608.3:c.332-1130=	NM_006608.3:c.332-1130G>T	NM_006608.3:c.332-1130G>A
PHTF1 transcript variant X1	XM_005270383.1:c.332-1130=	XM_005270383.1:c.332-1130G>T	XM_005270383.1:c.332-1130G>A
PHTF1 transcript variant X2	XM_005270384.1:c.332-1130=	XM_005270384.1:c.332-1130G>T	XM_005270384.1:c.332-1130G>A
PHTF1 transcript variant X3	XM_005270385.1:c.245-1130=	XM_005270385.1:c.245-1130G>T	XM_005270385.1:c.245-1130G>A
PHTF1 transcript variant X4	XM_005270386.1:c.332-1130=	XM_005270386.1:c.332-1130G>T	XM_005270386.1:c.332-1130G>A
PHTF1 transcript variant X8	XM_005270387.1:c.332-1130=	XM_005270387.1:c.332-1130G>T	XM_005270387.1:c.332-1130G>A

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#.

70 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6683520	Feb 20, 2003 (111)
2	CSHL-HAPMAP	ss16419896	Feb 27, 2004 (120)
3	SSAHASNP	ss20580779	Apr 05, 2004 (123)
4	ABI	ss41227078	Mar 15, 2006 (126)
5	HUMANGENOME_JCVI	ss97968723	Feb 05, 2009 (130)
6	ILLUMINA-UK	ss118981807	Dec 01, 2009 (131)
7	ENSEMBL	ss139272108	Dec 01, 2009 (131)
8	GMI	ss155552414	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss163932087	Jul 04, 2010 (132)
10	COMPLETE_GENOMICS	ss165059185	Jul 04, 2010 (132)
11	COMPLETE_GENOMICS	ss167019099	Jul 04, 2010 (132)
12	BUSHMAN	ss198954786	Jul 04, 2010 (132)
13	BCM-HGSC-SUB	ss205429507	Jul 04, 2010 (132)
14	1000GENOMES	ss230698620	Jul 14, 2010 (132)
15	BL	ss253397024	May 09, 2011 (134)
16	GMI	ss275984659	May 04, 2012 (137)
17	PJP	ss290602274	May 09, 2011 (134)
18	TISHKOFF	ss554594723	Apr 25, 2013 (138)
19	SSMP	ss648323963	Apr 25, 2013 (138)
20	EVA-GONL	ss975587905	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1068205863	Aug 21, 2014 (142)
22	1000GENOMES	ss1292499811	Aug 21, 2014 (142)
23	DDI	ss1425942477	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1574334173	Apr 01, 2015 (144)
25	EVA_DECODE	ss1584968766	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1601026091	Apr 01, 2015 (144)
27	EVA_UK10K_ALSPAC	ss1601026092	Apr 01, 2015 (144)
28	EVA_UK10K_TWINSUK	ss1644020124	Apr 01, 2015 (144)
29	EVA_UK10K_TWINSUK	ss1644020125	Apr 01, 2015 (144)
30	HAMMER_LAB	ss1794958173	Sep 08, 2015 (146)
31	WEILL_CORNELL_DGM	ss1918788180	Feb 12, 2016 (147)
32	JJLAB	ss2019918502	Sep 14, 2016 (149)
33	ILLUMINA	ss2094847197	Dec 20, 2016 (150)
34	USC_VALOUEV	ss2147937284	Dec 20, 2016 (150)
35	HUMAN_LONGEVITY	ss2165852474	Dec 20, 2016 (150)
36	SYSTEMSBIOZJU	ss2624468899	Nov 08, 2017 (151)
37	GRF	ss2697867612	Nov 08, 2017 (151)
38	ILLUMINA	ss2710680333	Nov 08, 2017 (151)
39	GNOMAD	ss2759753254	Nov 08, 2017 (151)
40	SWEGEN	ss2987466405	Nov 08, 2017 (151)
41	BIOINF_KMB_FNS_UNIBA	ss3023723796	Nov 08, 2017 (151)
42	CSHL	ss3343642977	Nov 08, 2017 (151)
43	URBANLAB	ss3646756474	Oct 11, 2018 (152)
44	EGCUT_WGS	ss3655555266	Jul 12, 2019 (153)
45	EVA_DECODE	ss3687564252	Jul 12, 2019 (153)
46	ACPOP	ss3727403295	Jul 12, 2019 (153)
47	EVA	ss3746692888	Jul 12, 2019 (153)
48	KHV_HUMAN_GENOMES	ss3799695706	Jul 12, 2019 (153)
49	EVA	ss3826378873	Apr 25, 2020 (154)
50	EVA	ss3836581132	Apr 25, 2020 (154)
51	EVA	ss3841989577	Apr 25, 2020 (154)
52	SGDP_PRJ	ss3849684952	Apr 25, 2020 (154)
53	KRGDB	ss3894783477	Apr 25, 2020 (154)
54	KOGIC	ss3945281996	Apr 25, 2020 (154)
55	KOGIC	ss3945281997	Apr 25, 2020 (154)
56	TOPMED	ss4464200494	Apr 25, 2021 (155)
57	TOMMO_GENOMICS	ss5145758030	Apr 25, 2021 (155)
58	1000G_HIGH_COVERAGE	ss5243668004	Oct 12, 2022 (156)
59	EVA	ss5321291225	Oct 12, 2022 (156)
60	HUGCELL_USP	ss5444585508	Oct 12, 2022 (156)
61	EVA	ss5506002816	Oct 12, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5516691305	Oct 12, 2022 (156)
63	SANFORD_IMAGENETICS	ss5626331774	Oct 12, 2022 (156)
64	TOMMO_GENOMICS	ss5671049678	Oct 12, 2022 (156)
65	TOMMO_GENOMICS	ss5671049679	Oct 12, 2022 (156)
66	YY_MCH	ss5800946417	Oct 12, 2022 (156)
67	EVA	ss5832506779	Oct 12, 2022 (156)
68	EVA	ss5849074755	Oct 12, 2022 (156)
69	EVA	ss5909868218	Oct 12, 2022 (156)
70	EVA	ss5938199382	Oct 12, 2022 (156)
71	1000Genomes	NC_000001.10 - 114270326	Oct 11, 2018 (152)
72	1000Genomes_30x	NC_000001.11 - 113727704	Oct 12, 2022 (156)
73	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 1813600 (NC_000001.10:114270325:C:C 964/3854, NC_000001.10:114270325:C:A 2890/3854) Row 1813601 (NC_000001.10:114270325:C:C 3853/3854, NC_000001.10:114270325:C:T 1/3854)	-	Oct 11, 2018 (152)
74	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 1813600 (NC_000001.10:114270325:C:C 964/3854, NC_000001.10:114270325:C:A 2890/3854) Row 1813601 (NC_000001.10:114270325:C:C 3853/3854, NC_000001.10:114270325:C:T 1/3854)	-	Oct 11, 2018 (152)
75	Genetic variation in the Estonian population	NC_000001.10 - 114270326	Oct 11, 2018 (152)
76	The Danish reference pan genome	NC_000001.10 - 114270326	Apr 25, 2020 (154)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23186390 (NC_000001.11:113727703:C:A 105291/139996) Row 23186391 (NC_000001.11:113727703:C:T 2/140044)	-	Apr 25, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23186390 (NC_000001.11:113727703:C:A 105291/139996) Row 23186391 (NC_000001.11:113727703:C:T 2/140044)	-	Apr 25, 2021 (155)
79	Genome of the Netherlands Release 5	NC_000001.10 - 114270326	Apr 25, 2020 (154)
80	KOREAN population from KRGDB	NC_000001.10 - 114270326	Apr 25, 2020 (154)
81	Korean Genome Project Submission ignored due to conflicting rows: Row 1659997 (NC_000001.11:113727703:C:A 660/1832) Row 1659998 (NC_000001.11:113727703:C:T 1/1832)	-	Apr 25, 2020 (154)
82	Korean Genome Project Submission ignored due to conflicting rows: Row 1659997 (NC_000001.11:113727703:C:A 660/1832) Row 1659998 (NC_000001.11:113727703:C:T 1/1832)	-	Apr 25, 2020 (154)
83	Northern Sweden	NC_000001.10 - 114270326	Jul 12, 2019 (153)
84	Qatari	NC_000001.10 - 114270326	Apr 25, 2020 (154)
85	SGDP_PRJ	NC_000001.10 - 114270326	Apr 25, 2020 (154)
86	Siberian	NC_000001.10 - 114270326	Apr 25, 2020 (154)
87	8.3KJPN	NC_000001.10 - 114270326	Apr 25, 2021 (155)
88	14KJPN Submission ignored due to conflicting rows: Row 4886782 (NC_000001.11:113727703:C:A 11588/28256) Row 4886783 (NC_000001.11:113727703:C:T 4/28256)	-	Oct 12, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 4886782 (NC_000001.11:113727703:C:A 11588/28256) Row 4886783 (NC_000001.11:113727703:C:T 4/28256)	-	Oct 12, 2022 (156)
90	TopMed	NC_000001.11 - 113727704	Apr 25, 2021 (155)
91	UK 10K study - Twins Submission ignored due to conflicting rows: Row 1813600 (NC_000001.10:114270325:C:C 900/3708, NC_000001.10:114270325:C:A 2808/3708) Row 1813601 (NC_000001.10:114270325:C:C 3708/3708, NC_000001.10:114270325:C:T 0/3708)	-	Oct 11, 2018 (152)
92	UK 10K study - Twins Submission ignored due to conflicting rows: Row 1813600 (NC_000001.10:114270325:C:C 900/3708, NC_000001.10:114270325:C:A 2808/3708) Row 1813601 (NC_000001.10:114270325:C:C 3708/3708, NC_000001.10:114270325:C:T 0/3708)	-	Oct 11, 2018 (152)
93	A Vietnamese Genetic Variation Database	NC_000001.10 - 114270326	Jul 12, 2019 (153)
94	ALFA	NC_000001.11 - 113727704	Apr 25, 2021 (155)

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)
rs12754275	Sep 24, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss118981807, ss163932087, ss165059185, ss167019099, ss198954786, ss205429507, ss253397024, ss275984659, ss290602274, ss1584968766, ss2094847197	NC_000001.9:114071848:C:A	NC_000001.11:113727703:C:A	(self)
3278132, 1293514, 1671750, 788734, 1960871, 688160, 830110, 1701932, 453638, 3727337, 392696, ss230698620, ss554594723, ss648323963, ss975587905, ss1068205863, ss1292499811, ss1425942477, ss1574334173, ss1601026091, ss1644020124, ss1794958173, ss1918788180, ss2019918502, ss2147937284, ss2624468899, ss2697867612, ss2710680333, ss2759753254, ss2987466405, ss3343642977, ss3655555266, ss3727403295, ss3746692888, ss3826378873, ss3836581132, ss3849684952, ss3894783477, ss5145758030, ss5321291225, ss5506002816, ss5626331774, ss5832506779, ss5938199382	NC_000001.10:114270325:C:A	NC_000001.11:113727703:C:A	(self)
4217240, 27806829, 9320032470, ss2165852474, ss3023723796, ss3646756474, ss3687564252, ss3799695706, ss3841989577, ss3945281996, ss4464200494, ss5243668004, ss5444585508, ss5516691305, ss5671049678, ss5800946417, ss5849074755, ss5909868218	NC_000001.11:113727703:C:A	NC_000001.11:113727703:C:A	(self)
ss16419896, ss20580779	NT_019273.16:5266273:C:A	NC_000001.11:113727703:C:A	(self)
ss6683520, ss41227078, ss97968723, ss139272108, ss155552414	NT_032977.9:84242243:C:A	NC_000001.11:113727703:C:A	(self)
1960871, 1701932, ss1601026092, ss1644020125, ss2759753254, ss3849684952, ss3894783477	NC_000001.10:114270325:C:T	NC_000001.11:113727703:C:T	(self)
9320032470, ss3945281997, ss5671049679	NC_000001.11:113727703:C:T	NC_000001.11:113727703:C:T	(self)

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

No publications for rs4838998

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

Genome context:

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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).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4838998