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dbSNP Short Genetic Variations

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.

rs10249531

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:114374519 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.351465 (104345/296886, ALFA)
C=0.362658 (95992/264690, TOPMED)
C=0.32622 (25674/78702, PAGE_STUDY) (+ 20 more)
C=0.01826 (516/28258, 14KJPN)
C=0.01832 (307/16758, 8.3KJPN)
C=0.2840 (1819/6404, 1000G_30x)
C=0.2784 (1394/5008, 1000G)
C=0.3386 (1517/4480, Estonian)
C=0.3944 (1520/3854, ALSPAC)
C=0.3854 (1429/3708, TWINSUK)
C=0.0236 (69/2922, KOREAN)
C=0.2399 (500/2084, HGDP_Stanford)
C=0.3124 (591/1892, HapMap)
C=0.0267 (49/1832, Korea1K)
C=0.360 (359/998, GoNL)
C=0.044 (35/790, PRJEB37584)
C=0.378 (227/600, NorthernSweden)
T=0.400 (100/250, SGDP_PRJ)
C=0.375 (81/216, Qatari)
C=0.093 (20/216, Vietnamese)
C=0.15 (12/80, Ancient Sardinia)
C=0.35 (14/40, GENOME_DK)
T=0.45 (10/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FOXP2 : Intron Variant
Publications
1 citation
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 301922 T=0.647962 C=0.352038, G=0.000000
European Sub 268164 T=0.639318 C=0.360682, G=0.000000
African Sub 7230 T=0.6292 C=0.3708, G=0.0000
African Others Sub 302 T=0.606 C=0.394, G=0.000
African American Sub 6928 T=0.6302 C=0.3698, G=0.0000
Asian Sub 3936 T=0.9431 C=0.0569, G=0.0000
East Asian Sub 3192 T=0.9665 C=0.0335, G=0.0000
Other Asian Sub 744 T=0.843 C=0.157, G=0.000
Latin American 1 Sub 1058 T=0.6276 C=0.3724, G=0.0000
Latin American 2 Sub 6926 T=0.7232 C=0.2768, G=0.0000
South Asian Sub 5182 T=0.7545 C=0.2455, G=0.0000
Other Sub 9426 T=0.6735 C=0.3265, G=0.0000


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 296886 T=0.648535 C=0.351465, G=0.000000
Allele Frequency Aggregator European Sub 265070 T=0.639514 C=0.360486, G=0.000000
Allele Frequency Aggregator Other Sub 8626 T=0.6759 C=0.3241, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6926 T=0.7232 C=0.2768, G=0.0000
Allele Frequency Aggregator African Sub 6088 T=0.6406 C=0.3594, G=0.0000
Allele Frequency Aggregator South Asian Sub 5182 T=0.7545 C=0.2455, G=0.0000
Allele Frequency Aggregator Asian Sub 3936 T=0.9431 C=0.0569, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1058 T=0.6276 C=0.3724, G=0.0000
TopMed Global Study-wide 264690 T=0.637342 C=0.362658
The PAGE Study Global Study-wide 78702 T=0.67378 C=0.32622
The PAGE Study AfricanAmerican Sub 32516 T=0.57095 C=0.42905
The PAGE Study Mexican Sub 10810 T=0.69787 C=0.30213
The PAGE Study Asian Sub 8318 T=0.9695 C=0.0305
The PAGE Study PuertoRican Sub 7918 T=0.6586 C=0.3414
The PAGE Study NativeHawaiian Sub 4534 T=0.8734 C=0.1266
The PAGE Study Cuban Sub 4230 T=0.6461 C=0.3539
The PAGE Study Dominican Sub 3828 T=0.6149 C=0.3851
The PAGE Study CentralAmerican Sub 2450 T=0.6788 C=0.3212
The PAGE Study SouthAmerican Sub 1982 T=0.7134 C=0.2866
The PAGE Study NativeAmerican Sub 1260 T=0.6770 C=0.3230
The PAGE Study SouthAsian Sub 856 T=0.775 C=0.225
14KJPN JAPANESE Study-wide 28258 T=0.98174 C=0.01826
8.3KJPN JAPANESE Study-wide 16758 T=0.98168 C=0.01832
1000Genomes_30x Global Study-wide 6404 T=0.7160 C=0.2840
1000Genomes_30x African Sub 1786 T=0.5588 C=0.4412
1000Genomes_30x Europe Sub 1266 T=0.6374 C=0.3626
1000Genomes_30x South Asian Sub 1202 T=0.8078 C=0.1922
1000Genomes_30x East Asian Sub 1170 T=0.9333 C=0.0667
1000Genomes_30x American Sub 980 T=0.732 C=0.268
1000Genomes Global Study-wide 5008 T=0.7216 C=0.2784
1000Genomes African Sub 1322 T=0.5582 C=0.4418
1000Genomes East Asian Sub 1008 T=0.9345 C=0.0655
1000Genomes Europe Sub 1006 T=0.6392 C=0.3608
1000Genomes South Asian Sub 978 T=0.803 C=0.197
1000Genomes American Sub 694 T=0.729 C=0.271
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6614 C=0.3386
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6056 C=0.3944
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6146 C=0.3854
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9764 C=0.0236
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.7601 C=0.2399
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.926 C=0.074
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.742 C=0.258
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.714 C=0.286
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.675 C=0.325
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.525 C=0.475
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.949 C=0.051
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.61 C=0.39
HapMap Global Study-wide 1892 T=0.6876 C=0.3124
HapMap American Sub 770 T=0.745 C=0.255
HapMap African Sub 692 T=0.514 C=0.486
HapMap Asian Sub 254 T=0.965 C=0.035
HapMap Europe Sub 176 T=0.716 C=0.284
Korean Genome Project KOREAN Study-wide 1832 T=0.9733 C=0.0267
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.640 C=0.360
CNV burdens in cranial meningiomas Global Study-wide 790 T=0.956 C=0.044
CNV burdens in cranial meningiomas CRM Sub 790 T=0.956 C=0.044
Northern Sweden ACPOP Study-wide 600 T=0.622 C=0.378
SGDP_PRJ Global Study-wide 250 T=0.400 C=0.600
Qatari Global Study-wide 216 T=0.625 C=0.375
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.907 C=0.093
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 T=0.85 C=0.15
The Danish reference pan genome Danish Study-wide 40 T=0.65 C=0.35
Siberian Global Study-wide 22 T=0.45 C=0.55
Help

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.114374519T>C
GRCh38.p14 chr 7 NC_000007.14:g.114374519T>G
GRCh37.p13 chr 7 NC_000007.13:g.114014574T>C
GRCh37.p13 chr 7 NC_000007.13:g.114014574T>G
FOXP2 RefSeqGene NG_007491.3:g.293210T>C
FOXP2 RefSeqGene NG_007491.3:g.293210T>G
Gene: FOXP2, forkhead box P2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FOXP2 transcript variant 5 NM_001172766.3:c. N/A Genic Upstream Transcript Variant
FOXP2 transcript variant 6 NM_001172767.2:c. N/A Genic Upstream Transcript Variant
FOXP2 transcript variant 1 NM_014491.4:c. N/A Genic Upstream Transcript Variant
FOXP2 transcript variant 2 NM_148898.4:c. N/A Genic Upstream Transcript Variant
FOXP2 transcript variant 3 NM_148899.3:c. N/A Genic Upstream Transcript Variant
FOXP2 transcript variant 4 NM_148900.4:c. N/A Genic Upstream Transcript Variant
FOXP2 transcript variant 7 NR_033766.2:n. N/A Intron Variant
FOXP2 transcript variant 8 NR_033767.2:n. N/A Genic Upstream Transcript Variant
Help

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
Help

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 T= C G
GRCh38.p14 chr 7 NC_000007.14:g.114374519= NC_000007.14:g.114374519T>C NC_000007.14:g.114374519T>G
GRCh37.p13 chr 7 NC_000007.13:g.114014574= NC_000007.13:g.114014574T>C NC_000007.13:g.114014574T>G
FOXP2 RefSeqGene NG_007491.3:g.293210= NG_007491.3:g.293210T>C NG_007491.3:g.293210T>G
Help

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#.

127 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 WUGSC_SSAHASNP ss14119328 Dec 05, 2003 (119)
2 PERLEGEN ss23445102 Sep 20, 2004 (123)
3 ILLUMINA ss66762429 Dec 01, 2006 (127)
4 ILLUMINA ss66878283 Dec 01, 2006 (127)
5 ILLUMINA ss66965336 Dec 01, 2006 (127)
6 ILLUMINA ss70362983 May 18, 2007 (127)
7 ILLUMINA ss70473940 May 24, 2008 (130)
8 ILLUMINA ss70996303 May 18, 2007 (127)
9 ILLUMINA ss75752153 Dec 06, 2007 (129)
10 HGSV ss77402255 Dec 06, 2007 (129)
11 KRIBB_YJKIM ss84928524 Dec 14, 2007 (130)
12 HGSV ss85159622 Dec 14, 2007 (130)
13 1000GENOMES ss112460779 Jan 25, 2009 (130)
14 1000GENOMES ss114295735 Jan 25, 2009 (130)
15 ILLUMINA-UK ss116260523 Feb 14, 2009 (130)
16 ILLUMINA ss121289671 Dec 01, 2009 (131)
17 ILLUMINA ss152615913 Dec 01, 2009 (131)
18 ILLUMINA ss159118323 Dec 01, 2009 (131)
19 ILLUMINA ss159883018 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss165190135 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss167014614 Jul 04, 2010 (132)
22 ILLUMINA ss169336516 Jul 04, 2010 (132)
23 ILLUMINA ss169924362 Jul 04, 2010 (132)
24 BUSHMAN ss198123645 Jul 04, 2010 (132)
25 1000GENOMES ss223278915 Jul 14, 2010 (132)
26 1000GENOMES ss234129456 Jul 15, 2010 (132)
27 ILLUMINA ss479237807 May 04, 2012 (137)
28 ILLUMINA ss479240473 May 04, 2012 (137)
29 ILLUMINA ss479597998 Sep 08, 2015 (146)
30 ILLUMINA ss484419645 May 04, 2012 (137)
31 ILLUMINA ss536594685 Sep 08, 2015 (146)
32 TISHKOFF ss560245364 Apr 25, 2013 (138)
33 SSMP ss654650730 Apr 25, 2013 (138)
34 ILLUMINA ss778352820 Aug 21, 2014 (142)
35 ILLUMINA ss782656273 Aug 21, 2014 (142)
36 ILLUMINA ss783625400 Aug 21, 2014 (142)
37 ILLUMINA ss825332714 Apr 01, 2015 (144)
38 ILLUMINA ss831906691 Apr 01, 2015 (144)
39 ILLUMINA ss832631055 Aug 21, 2014 (142)
40 ILLUMINA ss833221744 Aug 21, 2014 (142)
41 ILLUMINA ss833807527 Aug 21, 2014 (142)
42 EVA-GONL ss984693324 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1074905512 Aug 21, 2014 (142)
44 1000GENOMES ss1326744792 Aug 21, 2014 (142)
45 DDI ss1431251528 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1582363643 Apr 01, 2015 (144)
47 EVA_DECODE ss1594276391 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1619006116 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1662000149 Apr 01, 2015 (144)
50 EVA_SVP ss1712981131 Apr 01, 2015 (144)
51 ILLUMINA ss1752659480 Sep 08, 2015 (146)
52 HAMMER_LAB ss1805177851 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1927956058 Feb 12, 2016 (147)
54 ILLUMINA ss1946218507 Feb 12, 2016 (147)
55 ILLUMINA ss1959044863 Feb 12, 2016 (147)
56 GENOMED ss1970793065 Jul 19, 2016 (147)
57 JJLAB ss2024661818 Sep 14, 2016 (149)
58 USC_VALOUEV ss2152885686 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2297024139 Dec 20, 2016 (150)
60 SYSTEMSBIOZJU ss2626820975 Nov 08, 2017 (151)
61 ILLUMINA ss2634650013 Nov 08, 2017 (151)
62 GRF ss2708600601 Nov 08, 2017 (151)
63 ILLUMINA ss2711119448 Nov 08, 2017 (151)
64 GNOMAD ss2857968426 Nov 08, 2017 (151)
65 SWEGEN ss3001878040 Nov 08, 2017 (151)
66 ILLUMINA ss3022771192 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3026121971 Nov 08, 2017 (151)
68 CSHL ss3347800836 Nov 08, 2017 (151)
69 ILLUMINA ss3625936093 Oct 12, 2018 (152)
70 ILLUMINA ss3629894522 Oct 12, 2018 (152)
71 ILLUMINA ss3632554811 Oct 12, 2018 (152)
72 ILLUMINA ss3633475257 Oct 12, 2018 (152)
73 ILLUMINA ss3634200799 Oct 12, 2018 (152)
74 ILLUMINA ss3635137920 Oct 12, 2018 (152)
75 ILLUMINA ss3635880287 Oct 12, 2018 (152)
76 ILLUMINA ss3636872181 Oct 12, 2018 (152)
77 ILLUMINA ss3637633326 Oct 12, 2018 (152)
78 ILLUMINA ss3638718836 Oct 12, 2018 (152)
79 ILLUMINA ss3639360860 Oct 12, 2018 (152)
80 ILLUMINA ss3639709033 Oct 12, 2018 (152)
81 ILLUMINA ss3640845212 Oct 12, 2018 (152)
82 ILLUMINA ss3643653088 Oct 12, 2018 (152)
83 ILLUMINA ss3644951644 Oct 12, 2018 (152)
84 ILLUMINA ss3653305996 Oct 12, 2018 (152)
85 EGCUT_WGS ss3669626133 Jul 13, 2019 (153)
86 EVA_DECODE ss3720501844 Jul 13, 2019 (153)
87 ILLUMINA ss3726474400 Jul 13, 2019 (153)
88 ACPOP ss3734988000 Jul 13, 2019 (153)
89 ILLUMINA ss3744295124 Jul 13, 2019 (153)
90 ILLUMINA ss3745437925 Jul 13, 2019 (153)
91 EVA ss3767044026 Jul 13, 2019 (153)
92 PAGE_CC ss3771393218 Jul 13, 2019 (153)
93 ILLUMINA ss3772930692 Jul 13, 2019 (153)
94 PACBIO ss3785932783 Jul 13, 2019 (153)
95 PACBIO ss3791215825 Jul 13, 2019 (153)
96 PACBIO ss3796095917 Jul 13, 2019 (153)
97 KHV_HUMAN_GENOMES ss3810216104 Jul 13, 2019 (153)
98 EVA ss3830772106 Apr 26, 2020 (154)
99 EVA ss3838885214 Apr 26, 2020 (154)
100 EVA ss3844341156 Apr 26, 2020 (154)
101 HGDP ss3847888134 Apr 26, 2020 (154)
102 SGDP_PRJ ss3868198335 Apr 26, 2020 (154)
103 KRGDB ss3915522337 Apr 26, 2020 (154)
104 KOGIC ss3962396941 Apr 26, 2020 (154)
105 EVA ss3984593904 Apr 26, 2021 (155)
106 EVA ss3985316531 Apr 26, 2021 (155)
107 TOPMED ss4760176265 Apr 26, 2021 (155)
108 TOMMO_GENOMICS ss5185142614 Apr 26, 2021 (155)
109 EVA ss5237427886 Apr 26, 2021 (155)
110 1000G_HIGH_COVERAGE ss5274397552 Oct 14, 2022 (156)
111 EVA ss5315273391 Oct 14, 2022 (156)
112 EVA ss5376150771 Oct 14, 2022 (156)
113 HUGCELL_USP ss5471318007 Oct 14, 2022 (156)
114 EVA ss5509097092 Oct 14, 2022 (156)
115 1000G_HIGH_COVERAGE ss5563368137 Oct 14, 2022 (156)
116 SANFORD_IMAGENETICS ss5624672833 Oct 14, 2022 (156)
117 SANFORD_IMAGENETICS ss5643794402 Oct 14, 2022 (156)
118 TOMMO_GENOMICS ss5726006875 Oct 14, 2022 (156)
119 EVA ss5799734758 Oct 14, 2022 (156)
120 YY_MCH ss5809012463 Oct 14, 2022 (156)
121 EVA ss5823395339 Oct 14, 2022 (156)
122 EVA ss5847324665 Oct 14, 2022 (156)
123 EVA ss5848150754 Oct 14, 2022 (156)
124 EVA ss5856058851 Oct 14, 2022 (156)
125 EVA ss5860490399 Oct 14, 2022 (156)
126 EVA ss5972980329 Oct 14, 2022 (156)
127 EVA ss5979838409 Oct 14, 2022 (156)
128 1000Genomes NC_000007.13 - 114014574 Oct 12, 2018 (152)
129 1000Genomes_30x NC_000007.14 - 114374519 Oct 14, 2022 (156)
130 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 114014574 Oct 12, 2018 (152)
131 Genetic variation in the Estonian population NC_000007.13 - 114014574 Oct 12, 2018 (152)
132 The Danish reference pan genome NC_000007.13 - 114014574 Apr 26, 2020 (154)
133 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 273696956 (NC_000007.14:114374518:T:C 52054/139956)
Row 273696957 (NC_000007.14:114374518:T:G 34/140032)

- Apr 26, 2021 (155)
134 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 273696956 (NC_000007.14:114374518:T:C 52054/139956)
Row 273696957 (NC_000007.14:114374518:T:G 34/140032)

- Apr 26, 2021 (155)
135 Genome of the Netherlands Release 5 NC_000007.13 - 114014574 Apr 26, 2020 (154)
136 HGDP-CEPH-db Supplement 1 NC_000007.12 - 113801810 Apr 26, 2020 (154)
137 HapMap NC_000007.14 - 114374519 Apr 26, 2020 (154)
138 KOREAN population from KRGDB NC_000007.13 - 114014574 Apr 26, 2020 (154)
139 Korean Genome Project NC_000007.14 - 114374519 Apr 26, 2020 (154)
140 Northern Sweden NC_000007.13 - 114014574 Jul 13, 2019 (153)
141 The PAGE Study NC_000007.14 - 114374519 Jul 13, 2019 (153)
142 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 114014574 Apr 26, 2021 (155)
143 CNV burdens in cranial meningiomas NC_000007.13 - 114014574 Apr 26, 2021 (155)
144 Qatari NC_000007.13 - 114014574 Apr 26, 2020 (154)
145 SGDP_PRJ NC_000007.13 - 114014574 Apr 26, 2020 (154)
146 Siberian NC_000007.13 - 114014574 Apr 26, 2020 (154)
147 8.3KJPN NC_000007.13 - 114014574 Apr 26, 2021 (155)
148 14KJPN NC_000007.14 - 114374519 Oct 14, 2022 (156)
149 TopMed NC_000007.14 - 114374519 Apr 26, 2021 (155)
150 UK 10K study - Twins NC_000007.13 - 114014574 Oct 12, 2018 (152)
151 A Vietnamese Genetic Variation Database NC_000007.13 - 114014574 Jul 13, 2019 (153)
152 ALFA NC_000007.14 - 114374519 Apr 26, 2021 (155)
Help

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)
rs57688767 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77402255, ss85159622, ss3639360860, ss3639709033 NC_000007.11:113608524:T:C NC_000007.14:114374518:T:C (self)
566026, ss112460779, ss114295735, ss116260523, ss159883018, ss165190135, ss167014614, ss198123645, ss479237807, ss825332714, ss1594276391, ss1712981131, ss3643653088, ss3847888134 NC_000007.12:113801809:T:C NC_000007.14:114374518:T:C (self)
38773450, 21569405, 15364381, 8528582, 9626530, 22699731, 8272865, 542458, 143332, 9997988, 20215315, 5402040, 43111921, 21569405, 4806653, ss223278915, ss234129456, ss479240473, ss479597998, ss484419645, ss536594685, ss560245364, ss654650730, ss778352820, ss782656273, ss783625400, ss831906691, ss832631055, ss833221744, ss833807527, ss984693324, ss1074905512, ss1326744792, ss1431251528, ss1582363643, ss1619006116, ss1662000149, ss1752659480, ss1805177851, ss1927956058, ss1946218507, ss1959044863, ss1970793065, ss2024661818, ss2152885686, ss2626820975, ss2634650013, ss2708600601, ss2711119448, ss2857968426, ss3001878040, ss3022771192, ss3347800836, ss3625936093, ss3629894522, ss3632554811, ss3633475257, ss3634200799, ss3635137920, ss3635880287, ss3636872181, ss3637633326, ss3638718836, ss3640845212, ss3644951644, ss3653305996, ss3669626133, ss3734988000, ss3744295124, ss3745437925, ss3767044026, ss3772930692, ss3785932783, ss3791215825, ss3796095917, ss3830772106, ss3838885214, ss3868198335, ss3915522337, ss3984593904, ss3985316531, ss5185142614, ss5237427886, ss5315273391, ss5376150771, ss5509097092, ss5624672833, ss5643794402, ss5799734758, ss5823395339, ss5847324665, ss5848150754, ss5972980329, ss5979838409 NC_000007.13:114014573:T:C NC_000007.14:114374518:T:C (self)
50894072, 3473534, 18774942, 614687, 59843979, 597553824, 9629660723, ss2297024139, ss3026121971, ss3720501844, ss3726474400, ss3771393218, ss3810216104, ss3844341156, ss3962396941, ss4760176265, ss5274397552, ss5471318007, ss5563368137, ss5726006875, ss5809012463, ss5856058851, ss5860490399 NC_000007.14:114374518:T:C NC_000007.14:114374518:T:C (self)
ss14119328 NT_007933.13:39191263:T:C NC_000007.14:114374518:T:C (self)
ss23445102, ss66762429, ss66878283, ss66965336, ss70362983, ss70473940, ss70996303, ss75752153, ss84928524, ss121289671, ss152615913, ss159118323, ss169336516, ss169924362 NT_007933.15:52047416:T:C NC_000007.14:114374518:T:C (self)
ss2857968426 NC_000007.13:114014573:T:G NC_000007.14:114374518:T:G (self)
9629660723 NC_000007.14:114374518:T:G NC_000007.14:114374518:T:G (self)
Help

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

1 citation for rs10249531
PMID Title Author Year Journal
21897444 Imaging genetics of FOXP2 in dyslexia. Wilcke A et al. 2012 European journal of human genetics
Help

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.

Software version is: 2.0.1.post761+d5e8e07