Name: rs10000502
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.

rs10000502

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:139943603 (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=0.371359 (98295/264690, TOPMED)
T=0.384235 (53753/139896, GnomAD)
T=0.33893 (21992/64886, ALFA) (+ 20 more)
T=0.26785 (7569/28258, 14KJPN)
T=0.26814 (4494/16760, 8.3KJPN)
T=0.3510 (2248/6404, 1000G_30x)
T=0.3496 (1751/5008, 1000G)
T=0.3797 (1701/4480, Estonian)
T=0.3638 (1402/3854, ALSPAC)
T=0.3633 (1347/3708, TWINSUK)
T=0.2604 (761/2922, KOREAN)
T=0.2745 (572/2084, HGDP_Stanford)
T=0.3649 (689/1888, HapMap)
T=0.2718 (498/1832, Korea1K)
T=0.383 (382/998, GoNL)
T=0.417 (250/600, NorthernSweden)
G=0.440 (125/284, SGDP_PRJ)
T=0.273 (59/216, Qatari)
T=0.282 (61/216, Vietnamese)
T=0.26 (12/46, Ancient Sardinia)
T=0.35 (14/40, GENOME_DK)
G=0.50 (12/24, Siberian)
T=0.50 (12/24, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MAML3 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	64886	G=0.66107	C=0.00000, T=0.33893
European	Sub	54674	G=0.65159	C=0.00000, T=0.34841
African	Sub	2808	G=0.6282	C=0.0000, T=0.3718
African Others	Sub	106	G=0.528	C=0.000, T=0.472
African American	Sub	2702	G=0.6321	C=0.0000, T=0.3679
Asian	Sub	134	G=0.813	C=0.000, T=0.187
East Asian	Sub	110	G=0.827	C=0.000, T=0.173
Other Asian	Sub	24	G=0.75	C=0.00, T=0.25
Latin American 1	Sub	176	G=0.830	C=0.000, T=0.170
Latin American 2	Sub	1004	G=0.8795	C=0.0000, T=0.1205
South Asian	Sub	4926	G=0.7190	C=0.0000, T=0.2810
Other	Sub	1164	G=0.7088	C=0.0000, T=0.2912

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=0.628641	T=0.371359
gnomAD - Genomes	Global	Study-wide	139896	G=0.615765	T=0.384235
gnomAD - Genomes	European	Sub	75796	G=0.63528	T=0.36472
gnomAD - Genomes	African	Sub	41888	G=0.52180	T=0.47820
gnomAD - Genomes	American	Sub	13624	G=0.76747	T=0.23253
gnomAD - Genomes	Ashkenazi Jewish	Sub	3314	G=0.6255	T=0.3745
gnomAD - Genomes	East Asian	Sub	3128	G=0.7187	T=0.2813
gnomAD - Genomes	Other	Sub	2146	G=0.6323	T=0.3677
Allele Frequency Aggregator	Total	Global	64886	G=0.66107	C=0.00000, T=0.33893
Allele Frequency Aggregator	European	Sub	54674	G=0.65159	C=0.00000, T=0.34841
Allele Frequency Aggregator	South Asian	Sub	4926	G=0.7190	C=0.0000, T=0.2810
Allele Frequency Aggregator	African	Sub	2808	G=0.6282	C=0.0000, T=0.3718
Allele Frequency Aggregator	Other	Sub	1164	G=0.7088	C=0.0000, T=0.2912
Allele Frequency Aggregator	Latin American 2	Sub	1004	G=0.8795	C=0.0000, T=0.1205
Allele Frequency Aggregator	Latin American 1	Sub	176	G=0.830	C=0.000, T=0.170
Allele Frequency Aggregator	Asian	Sub	134	G=0.813	C=0.000, T=0.187
14KJPN	JAPANESE	Study-wide	28258	G=0.73215	T=0.26785
8.3KJPN	JAPANESE	Study-wide	16760	G=0.73186	T=0.26814
1000Genomes_30x	Global	Study-wide	6404	G=0.6490	T=0.3510
1000Genomes_30x	African	Sub	1786	G=0.4966	T=0.5034
1000Genomes_30x	Europe	Sub	1266	G=0.6588	T=0.3412
1000Genomes_30x	South Asian	Sub	1202	G=0.6963	T=0.3037
1000Genomes_30x	East Asian	Sub	1170	G=0.6906	T=0.3094
1000Genomes_30x	American	Sub	980	G=0.806	T=0.194
1000Genomes	Global	Study-wide	5008	G=0.6504	T=0.3496
1000Genomes	African	Sub	1322	G=0.5083	T=0.4917
1000Genomes	East Asian	Sub	1008	G=0.6905	T=0.3095
1000Genomes	Europe	Sub	1006	G=0.6581	T=0.3419
1000Genomes	South Asian	Sub	978	G=0.685	T=0.315
1000Genomes	American	Sub	694	G=0.803	T=0.197
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.6203	T=0.3797
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6362	T=0.3638
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.6367	T=0.3633
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.7396	T=0.2604
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.7255	T=0.2745
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.711	T=0.289
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.729	T=0.271
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.720	T=0.280
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.691	T=0.309
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.574	T=0.426
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.954	T=0.046
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.81	T=0.19
HapMap	Global	Study-wide	1888	G=0.6351	T=0.3649
HapMap	American	Sub	768	G=0.706	T=0.294
HapMap	African	Sub	690	G=0.549	T=0.451
HapMap	Asian	Sub	254	G=0.681	T=0.319
HapMap	Europe	Sub	176	G=0.597	T=0.403
Korean Genome Project	KOREAN	Study-wide	1832	G=0.7282	T=0.2718
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.617	T=0.383
Northern Sweden	ACPOP	Study-wide	600	G=0.583	T=0.417
SGDP_PRJ	Global	Study-wide	284	G=0.440	T=0.560
Qatari	Global	Study-wide	216	G=0.727	T=0.273
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.718	T=0.282
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	46	G=0.74	T=0.26
The Danish reference pan genome	Danish	Study-wide	40	G=0.65	T=0.35
Siberian	Global	Study-wide	24	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 4	NC_000004.12:g.139943603G>C
GRCh38.p14 chr 4	NC_000004.12:g.139943603G>T
GRCh37.p13 chr 4	NC_000004.11:g.140864757G>C
GRCh37.p13 chr 4	NC_000004.11:g.140864757G>T

Gene: MAML3, mastermind like transcriptional coactivator 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MAML3 transcript	NM_018717.5:c.469-52636C>G	N/A	Intron Variant
MAML3 transcript variant X1	XM_047415929.1:c.469-5263… XM_047415929.1:c.469-52636C>G	N/A	Intron Variant
MAML3 transcript variant X2	XM_047415930.1:c.469-5263… XM_047415930.1:c.469-52636C>G	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	G=	C	T
GRCh38.p14 chr 4	NC_000004.12:g.139943603=	NC_000004.12:g.139943603G>C	NC_000004.12:g.139943603G>T
GRCh37.p13 chr 4	NC_000004.11:g.140864757=	NC_000004.11:g.140864757G>C	NC_000004.11:g.140864757G>T
MAML3 transcript	NM_018717.4:c.469-52636=	NM_018717.4:c.469-52636C>G	NM_018717.4:c.469-52636C>A
MAML3 transcript	NM_018717.5:c.469-52636=	NM_018717.5:c.469-52636C>G	NM_018717.5:c.469-52636C>A
MAML3 transcript variant X1	XM_047415929.1:c.469-52636=	XM_047415929.1:c.469-52636C>G	XM_047415929.1:c.469-52636C>A
MAML3 transcript variant X2	XM_047415930.1:c.469-52636=	XM_047415930.1:c.469-52636C>G	XM_047415930.1:c.469-52636C>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#.

92 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss13846167	Dec 05, 2003 (119)
2	PERLEGEN	ss23419180	Sep 20, 2004 (123)
3	ABI	ss44507247	Mar 13, 2006 (126)
4	ILLUMINA	ss66696574	Nov 29, 2006 (127)
5	ILLUMINA	ss66863636	Nov 29, 2006 (127)
6	ILLUMINA	ss66932370	Nov 29, 2006 (127)
7	ILLUMINA	ss70355800	May 17, 2007 (127)
8	ILLUMINA	ss70458985	May 25, 2008 (130)
9	ILLUMINA	ss70979529	May 17, 2007 (127)
10	ILLUMINA	ss75670672	Dec 07, 2007 (129)
11	HGSV	ss77483544	Dec 07, 2007 (129)
12	HGSV	ss83635202	Dec 15, 2007 (130)
13	KRIBB_YJKIM	ss84887442	Dec 15, 2007 (130)
14	BCMHGSC_JDW	ss92803238	Mar 24, 2008 (129)
15	1000GENOMES	ss108400190	Jan 23, 2009 (130)
16	1000GENOMES	ss110698138	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss117213598	Feb 14, 2009 (130)
18	ILLUMINA	ss121251324	Dec 01, 2009 (131)
19	ENSEMBL	ss139921867	Dec 01, 2009 (131)
20	ENSEMBL	ss139991568	Dec 01, 2009 (131)
21	ILLUMINA	ss152537497	Dec 01, 2009 (131)
22	GMI	ss157984742	Dec 01, 2009 (131)
23	ILLUMINA	ss159102838	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss164540502	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss167226532	Jul 04, 2010 (132)
26	ILLUMINA	ss169203495	Jul 04, 2010 (132)
27	ILLUMINA	ss169484587	Jul 04, 2010 (132)
28	BUSHMAN	ss199262868	Jul 04, 2010 (132)
29	BCM-HGSC-SUB	ss206319759	Jul 04, 2010 (132)
30	1000GENOMES	ss221252181	Jul 14, 2010 (132)
31	1000GENOMES	ss232628688	Jul 14, 2010 (132)
32	1000GENOMES	ss239869474	Jul 15, 2010 (132)
33	GMI	ss277962373	May 04, 2012 (137)
34	GMI	ss285019520	Apr 25, 2013 (138)
35	PJP	ss293202590	May 09, 2011 (134)
36	ILLUMINA	ss536563804	Sep 08, 2015 (146)
37	TISHKOFF	ss557900454	Apr 25, 2013 (138)
38	SSMP	ss651718665	Apr 25, 2013 (138)
39	ILLUMINA	ss825325531	Apr 01, 2015 (144)
40	ILLUMINA	ss832615634	Jul 13, 2019 (153)
41	EVA-GONL	ss980756450	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1072017024	Aug 21, 2014 (142)
43	1000GENOMES	ss1312102856	Aug 21, 2014 (142)
44	DDI	ss1430073481	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1580808557	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1611323461	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1654317494	Apr 01, 2015 (144)
48	EVA_SVP	ss1712711230	Apr 01, 2015 (144)
49	HAMMER_LAB	ss1802300380	Sep 08, 2015 (146)
50	WEILL_CORNELL_DGM	ss1923997488	Feb 12, 2016 (147)
51	GENOMED	ss1969888979	Jul 19, 2016 (147)
52	JJLAB	ss2022586182	Sep 14, 2016 (149)
53	USC_VALOUEV	ss2150717786	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2267739640	Dec 20, 2016 (150)
55	GRF	ss2706208957	Nov 08, 2017 (151)
56	GNOMAD	ss2816081845	Nov 08, 2017 (151)
57	SWEGEN	ss2995674543	Nov 08, 2017 (151)
58	BIOINF_KMB_FNS_UNIBA	ss3025070415	Nov 08, 2017 (151)
59	CSHL	ss3345997267	Nov 08, 2017 (151)
60	ILLUMINA	ss3629079433	Oct 12, 2018 (152)
61	ILLUMINA	ss3638515151	Oct 12, 2018 (152)
62	ILLUMINA	ss3639259805	Oct 12, 2018 (152)
63	ILLUMINA	ss3639651836	Oct 12, 2018 (152)
64	ILLUMINA	ss3643464339	Oct 12, 2018 (152)
65	URBANLAB	ss3647866141	Oct 12, 2018 (152)
66	EGCUT_WGS	ss3663582409	Jul 13, 2019 (153)
67	EVA_DECODE	ss3713202665	Jul 13, 2019 (153)
68	ACPOP	ss3731673906	Jul 13, 2019 (153)
69	EVA	ss3762500509	Jul 13, 2019 (153)
70	KHV_HUMAN_GENOMES	ss3805660892	Jul 13, 2019 (153)
71	EVA	ss3828847487	Apr 26, 2020 (154)
72	EVA	ss3837872503	Apr 26, 2020 (154)
73	EVA	ss3843312327	Apr 26, 2020 (154)
74	HGDP	ss3847766881	Apr 26, 2020 (154)
75	SGDP_PRJ	ss3860209954	Apr 26, 2020 (154)
76	KRGDB	ss3906536189	Apr 26, 2020 (154)
77	KOGIC	ss3955257421	Apr 26, 2020 (154)
78	EVA	ss3985099187	Apr 26, 2021 (155)
79	EVA	ss4017171804	Apr 26, 2021 (155)
80	TOPMED	ss4634501085	Apr 26, 2021 (155)
81	TOMMO_GENOMICS	ss5168331552	Apr 26, 2021 (155)
82	1000G_HIGH_COVERAGE	ss5261274566	Oct 13, 2022 (156)
83	EVA	ss5352755980	Oct 13, 2022 (156)
84	HUGCELL_USP	ss5459807255	Oct 13, 2022 (156)
85	1000G_HIGH_COVERAGE	ss5543503080	Oct 13, 2022 (156)
86	SANFORD_IMAGENETICS	ss5636243497	Oct 13, 2022 (156)
87	TOMMO_GENOMICS	ss5703412922	Oct 13, 2022 (156)
88	YY_MCH	ss5805602109	Oct 13, 2022 (156)
89	EVA	ss5844813315	Oct 13, 2022 (156)
90	EVA	ss5854477669	Oct 13, 2022 (156)
91	EVA	ss5865792604	Oct 13, 2022 (156)
92	EVA	ss5964647200	Oct 13, 2022 (156)
93	1000Genomes	NC_000004.11 - 140864757	Oct 12, 2018 (152)
94	1000Genomes_30x	NC_000004.12 - 139943603	Oct 13, 2022 (156)
95	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 140864757	Oct 12, 2018 (152)
96	Genetic variation in the Estonian population	NC_000004.11 - 140864757	Oct 12, 2018 (152)
97	The Danish reference pan genome	NC_000004.11 - 140864757	Apr 26, 2020 (154)
98	gnomAD - Genomes	NC_000004.12 - 139943603	Apr 26, 2021 (155)
99	Genome of the Netherlands Release 5	NC_000004.11 - 140864757	Apr 26, 2020 (154)
100	HGDP-CEPH-db Supplement 1	NC_000004.10 - 141084207	Apr 26, 2020 (154)
101	HapMap	NC_000004.12 - 139943603	Apr 26, 2020 (154)
102	KOREAN population from KRGDB	NC_000004.11 - 140864757	Apr 26, 2020 (154)
103	Korean Genome Project	NC_000004.12 - 139943603	Apr 26, 2020 (154)
104	Northern Sweden	NC_000004.11 - 140864757	Jul 13, 2019 (153)
105	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 140864757	Apr 26, 2021 (155)
106	Qatari	NC_000004.11 - 140864757	Apr 26, 2020 (154)
107	SGDP_PRJ	NC_000004.11 - 140864757	Apr 26, 2020 (154)
108	Siberian	NC_000004.11 - 140864757	Apr 26, 2020 (154)
109	8.3KJPN	NC_000004.11 - 140864757	Apr 26, 2021 (155)
110	14KJPN	NC_000004.12 - 139943603	Oct 13, 2022 (156)
111	TopMed	NC_000004.12 - 139943603	Apr 26, 2021 (155)
112	UK 10K study - Twins	NC_000004.11 - 140864757	Oct 12, 2018 (152)
113	A Vietnamese Genetic Variation Database	NC_000004.11 - 140864757	Jul 13, 2019 (153)
114	ALFA	NC_000004.12 - 139943603	Apr 26, 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)
rs59112232	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3946105869	NC_000004.12:139943602:G:C	NC_000004.12:139943602:G:C	(self)
ss77483544, ss83635202, ss3639259805, ss3639651836	NC_000004.9:141222361:G:T	NC_000004.12:139943602:G:T	(self)
444773, ss92803238, ss108400190, ss110698138, ss117213598, ss164540502, ss167226532, ss199262868, ss206319759, ss277962373, ss285019520, ss293202590, ss825325531, ss1712711230, ss3643464339, ss3847766881	NC_000004.10:141084206:G:T	NC_000004.12:139943602:G:T	(self)
23589472, 13118372, 9320657, 6973496, 5812324, 13713583, 4958771, 325114, 6039418, 12226934, 3234140, 26300859, 13118372, 2895103, ss221252181, ss232628688, ss239869474, ss536563804, ss557900454, ss651718665, ss832615634, ss980756450, ss1072017024, ss1312102856, ss1430073481, ss1580808557, ss1611323461, ss1654317494, ss1802300380, ss1923997488, ss1969888979, ss2022586182, ss2150717786, ss2706208957, ss2816081845, ss2995674543, ss3345997267, ss3629079433, ss3638515151, ss3663582409, ss3731673906, ss3762500509, ss3828847487, ss3837872503, ss3860209954, ss3906536189, ss3985099187, ss4017171804, ss5168331552, ss5352755980, ss5636243497, ss5844813315, ss5964647200	NC_000004.11:140864756:G:T	NC_000004.12:139943602:G:T	(self)
31029015, 167085484, 2722475, 11635422, 37250026, 471878641, 3946105869, ss2267739640, ss3025070415, ss3647866141, ss3713202665, ss3805660892, ss3843312327, ss3955257421, ss4634501085, ss5261274566, ss5459807255, ss5543503080, ss5703412922, ss5805602109, ss5854477669, ss5865792604	NC_000004.12:139943602:G:T	NC_000004.12:139943602:G:T	(self)
ss23419180, ss44507247, ss66696574, ss66863636, ss66932370, ss70355800, ss70458985, ss70979529, ss75670672, ss84887442, ss121251324, ss139921867, ss139991568, ss152537497, ss157984742, ss159102838, ss169203495, ss169484587	NT_016354.19:65412477:G:T	NC_000004.12:139943602:G:T	(self)
ss13846167	NT_016606.16:2412812:G:T	NC_000004.12:139943602:G: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 rs10000502

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs10000502