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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.

rs2293117

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:98935484 (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=0.397582 (105236/264690, TOPMED)
C=0.40763 (25947/63654, ALFA)
C=0.26891 (7599/28258, 14KJPN) (+ 19 more)
C=0.27017 (4528/16760, 8.3KJPN)
C=0.3526 (2258/6404, 1000G_30x)
C=0.3548 (1777/5008, 1000G)
C=0.4752 (2129/4480, Estonian)
C=0.4668 (1799/3854, ALSPAC)
C=0.4474 (1659/3708, TWINSUK)
C=0.3580 (1049/2930, KOREAN)
C=0.3577 (744/2080, HGDP_Stanford)
C=0.3598 (680/1890, HapMap)
C=0.3483 (638/1832, Korea1K)
C=0.468 (467/998, GoNL)
C=0.448 (269/600, NorthernSweden)
C=0.459 (245/534, MGP)
T=0.373 (109/292, SGDP_PRJ)
C=0.343 (74/216, Qatari)
C=0.344 (73/212, Vietnamese)
T=0.38 (32/84, Ancient Sardinia)
T=0.47 (19/40, GENOME_DK)
T=0.37 (11/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IGF1R : Intron Variant
Publications
2 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 63654 T=0.59237 C=0.40763, G=0.00000
European Sub 53460 T=0.56710 C=0.43290, G=0.00000
African Sub 2930 T=0.8058 C=0.1942, G=0.0000
African Others Sub 98 T=0.82 C=0.18, G=0.00
African American Sub 2832 T=0.8054 C=0.1946, G=0.0000
Asian Sub 120 T=0.817 C=0.183, G=0.000
East Asian Sub 90 T=0.80 C=0.20, G=0.00
Other Asian Sub 30 T=0.87 C=0.13, G=0.00
Latin American 1 Sub 166 T=0.723 C=0.277, G=0.000
Latin American 2 Sub 896 T=0.740 C=0.260, G=0.000
South Asian Sub 4906 T=0.6892 C=0.3108, G=0.0000
Other Sub 1176 T=0.6522 C=0.3478, 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
TopMed Global Study-wide 264690 T=0.602418 C=0.397582
Allele Frequency Aggregator Total Global 63654 T=0.59237 C=0.40763, G=0.00000
Allele Frequency Aggregator European Sub 53460 T=0.56710 C=0.43290, G=0.00000
Allele Frequency Aggregator South Asian Sub 4906 T=0.6892 C=0.3108, G=0.0000
Allele Frequency Aggregator African Sub 2930 T=0.8058 C=0.1942, G=0.0000
Allele Frequency Aggregator Other Sub 1176 T=0.6522 C=0.3478, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 896 T=0.740 C=0.260, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 166 T=0.723 C=0.277, G=0.000
Allele Frequency Aggregator Asian Sub 120 T=0.817 C=0.183, G=0.000
14KJPN JAPANESE Study-wide 28258 T=0.73109 C=0.26891
8.3KJPN JAPANESE Study-wide 16760 T=0.72983 C=0.27017
1000Genomes_30x Global Study-wide 6404 T=0.6451 C=0.3526, G=0.0023
1000Genomes_30x African Sub 1786 T=0.6937 C=0.3063, G=0.0000
1000Genomes_30x Europe Sub 1266 T=0.5664 C=0.4336, G=0.0000
1000Genomes_30x South Asian Sub 1202 T=0.6564 C=0.3319, G=0.0116
1000Genomes_30x East Asian Sub 1170 T=0.6521 C=0.3470, G=0.0009
1000Genomes_30x American Sub 980 T=0.636 C=0.364, G=0.000
1000Genomes Global Study-wide 5008 T=0.6452 C=0.3548
1000Genomes African Sub 1322 T=0.6906 C=0.3094
1000Genomes East Asian Sub 1008 T=0.6508 C=0.3492
1000Genomes Europe Sub 1006 T=0.5686 C=0.4314
1000Genomes South Asian Sub 978 T=0.666 C=0.334
1000Genomes American Sub 694 T=0.633 C=0.367
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5248 C=0.4752
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5332 C=0.4668
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5526 C=0.4474
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6420 C=0.3580
HGDP-CEPH-db Supplement 1 Global Study-wide 2080 T=0.6423 C=0.3577
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.681 C=0.319
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.628 C=0.372
HGDP-CEPH-db Supplement 1 Middle_Est Sub 346 T=0.598 C=0.402
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.603 C=0.397
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.595 C=0.405
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.681 C=0.319
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.90 C=0.10
HapMap Global Study-wide 1890 T=0.6402 C=0.3598
HapMap American Sub 770 T=0.645 C=0.355
HapMap African Sub 690 T=0.633 C=0.367
HapMap Asian Sub 254 T=0.669 C=0.331
HapMap Europe Sub 176 T=0.602 C=0.398
Korean Genome Project KOREAN Study-wide 1832 T=0.6517 C=0.3483
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.532 C=0.468
Northern Sweden ACPOP Study-wide 600 T=0.552 C=0.448
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.541 C=0.459
SGDP_PRJ Global Study-wide 292 T=0.373 C=0.627
Qatari Global Study-wide 216 T=0.657 C=0.343
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.656 C=0.344
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 T=0.38 C=0.62
The Danish reference pan genome Danish Study-wide 40 T=0.47 C=0.53
Siberian Global Study-wide 30 T=0.37 C=0.63
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 15 NC_000015.10:g.98935484T>C
GRCh38.p14 chr 15 NC_000015.10:g.98935484T>G
GRCh37.p13 chr 15 NC_000015.9:g.99478713T>C
GRCh37.p13 chr 15 NC_000015.9:g.99478713T>G
IGF1R RefSeqGene (LRG_1055) NG_009492.1:g.290953T>C
IGF1R RefSeqGene (LRG_1055) NG_009492.1:g.290953T>G
Gene: IGF1R, insulin like growth factor 1 receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IGF1R transcript variant 1 NM_000875.5:c.3297+58T>C N/A Intron Variant
IGF1R transcript variant 2 NM_001291858.2:c.3294+58T…

NM_001291858.2:c.3294+58T>C

N/A Intron Variant
IGF1R transcript variant X6 XM_011521516.3:c.2388+58T…

XM_011521516.3:c.2388+58T>C

N/A Intron Variant
IGF1R transcript variant X7 XM_011521517.3:c.1962+58T…

XM_011521517.3:c.1962+58T>C

N/A Intron Variant
IGF1R transcript variant X1 XM_017022137.2:c.3372+58T…

XM_017022137.2:c.3372+58T>C

N/A Intron Variant
IGF1R transcript variant X2 XM_047432442.1:c.3369+58T…

XM_047432442.1:c.3369+58T>C

N/A Intron Variant
IGF1R transcript variant X3 XM_047432443.1:c.3297+58T…

XM_047432443.1:c.3297+58T>C

N/A Intron Variant
IGF1R transcript variant X4 XM_047432444.1:c.3294+58T…

XM_047432444.1:c.3294+58T>C

N/A Intron Variant
IGF1R transcript variant X5 XM_047432445.1:c.2934+58T…

XM_047432445.1:c.2934+58T>C

N/A Intron 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 15 NC_000015.10:g.98935484= NC_000015.10:g.98935484T>C NC_000015.10:g.98935484T>G
GRCh37.p13 chr 15 NC_000015.9:g.99478713= NC_000015.9:g.99478713T>C NC_000015.9:g.99478713T>G
IGF1R RefSeqGene (LRG_1055) NG_009492.1:g.290953= NG_009492.1:g.290953T>C NG_009492.1:g.290953T>G
IGF1R transcript NM_000875.3:c.3297+58= NM_000875.3:c.3297+58T>C NM_000875.3:c.3297+58T>G
IGF1R transcript variant 1 NM_000875.5:c.3297+58= NM_000875.5:c.3297+58T>C NM_000875.5:c.3297+58T>G
IGF1R transcript variant 2 NM_001291858.2:c.3294+58= NM_001291858.2:c.3294+58T>C NM_001291858.2:c.3294+58T>G
IGF1R transcript variant X1 XM_005254896.1:c.3294+58= XM_005254896.1:c.3294+58T>C XM_005254896.1:c.3294+58T>G
IGF1R transcript variant X2 XM_005254897.1:c.2934+58= XM_005254897.1:c.2934+58T>C XM_005254897.1:c.2934+58T>G
IGF1R transcript variant X6 XM_011521516.3:c.2388+58= XM_011521516.3:c.2388+58T>C XM_011521516.3:c.2388+58T>G
IGF1R transcript variant X7 XM_011521517.3:c.1962+58= XM_011521517.3:c.1962+58T>C XM_011521517.3:c.1962+58T>G
IGF1R transcript variant X1 XM_017022137.2:c.3372+58= XM_017022137.2:c.3372+58T>C XM_017022137.2:c.3372+58T>G
IGF1R transcript variant X2 XM_047432442.1:c.3369+58= XM_047432442.1:c.3369+58T>C XM_047432442.1:c.3369+58T>G
IGF1R transcript variant X3 XM_047432443.1:c.3297+58= XM_047432443.1:c.3297+58T>C XM_047432443.1:c.3297+58T>G
IGF1R transcript variant X4 XM_047432444.1:c.3294+58= XM_047432444.1:c.3294+58T>C XM_047432444.1:c.3294+58T>G
IGF1R transcript variant X5 XM_047432445.1:c.2934+58= XM_047432445.1:c.2934+58T>C XM_047432445.1:c.2934+58T>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#.

114 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3236026 Sep 28, 2001 (100)
2 PERLEGEN ss23485860 Sep 20, 2004 (123)
3 CEPH ss46533854 Mar 15, 2006 (126)
4 AFFY ss65997338 Dec 01, 2006 (127)
5 ILLUMINA ss66612725 Dec 01, 2006 (127)
6 ILLUMINA ss67243470 Dec 01, 2006 (127)
7 ILLUMINA ss67640327 Dec 01, 2006 (127)
8 EGP_SNPS ss70456249 May 18, 2007 (127)
9 SHGC ss70458168 May 17, 2007 (138)
10 ILLUMINA ss70721811 May 24, 2008 (130)
11 ILLUMINA ss71290248 May 18, 2007 (127)
12 ILLUMINA ss75481277 Dec 07, 2007 (129)
13 CGM_KYOTO ss76865477 Dec 07, 2007 (129)
14 SI_EXO ss76898197 Dec 07, 2007 (129)
15 HGSV ss77356856 Dec 07, 2007 (129)
16 ILLUMINA ss79127526 Dec 15, 2007 (130)
17 HGSV ss81369238 Dec 15, 2007 (130)
18 KRIBB_YJKIM ss84025455 Dec 15, 2007 (130)
19 BCMHGSC_JDW ss90273164 Mar 24, 2008 (129)
20 CNG ss95210296 Mar 25, 2008 (129)
21 SHGC ss95216799 Feb 05, 2009 (130)
22 ILLUMINA-UK ss118354725 Feb 14, 2009 (130)
23 ILLUMINA ss121991135 Dec 01, 2009 (131)
24 ENSEMBL ss136523049 Dec 01, 2009 (131)
25 ENSEMBL ss142503357 Dec 01, 2009 (131)
26 ILLUMINA ss153900723 Dec 01, 2009 (131)
27 GMI ss156933107 Dec 01, 2009 (131)
28 ILLUMINA ss159378542 Dec 01, 2009 (131)
29 ILLUMINA ss171171367 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss171599340 Jul 04, 2010 (132)
31 ILLUMINA ss173262945 Jul 04, 2010 (132)
32 BUSHMAN ss201262010 Jul 04, 2010 (132)
33 1000GENOMES ss227071066 Jul 14, 2010 (132)
34 1000GENOMES ss236903303 Jul 15, 2010 (132)
35 1000GENOMES ss243266936 Jul 15, 2010 (132)
36 ILLUMINA ss244289558 Jul 04, 2010 (132)
37 BL ss255245463 May 09, 2011 (134)
38 GMI ss282387514 May 04, 2012 (137)
39 GMI ss287012924 Apr 25, 2013 (138)
40 PJP ss291787747 May 09, 2011 (134)
41 ILLUMINA ss537072166 Sep 08, 2015 (146)
42 TISHKOFF ss564691692 Apr 25, 2013 (138)
43 SSMP ss660434990 Apr 25, 2013 (138)
44 ILLUMINA ss825458044 Jul 19, 2016 (147)
45 ILLUMINA ss832890338 Aug 21, 2014 (142)
46 ILLUMINA ss833481168 Aug 21, 2014 (142)
47 EVA-GONL ss992145313 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1080387739 Aug 21, 2014 (142)
49 1000GENOMES ss1354847267 Aug 21, 2014 (142)
50 DDI ss1427735950 Apr 01, 2015 (144)
51 EVA_GENOME_DK ss1577778737 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1633737942 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1676731975 Apr 01, 2015 (144)
54 EVA_DECODE ss1696177277 Apr 01, 2015 (144)
55 EVA_MGP ss1711411129 Apr 01, 2015 (144)
56 EVA_SVP ss1713516491 Apr 01, 2015 (144)
57 HAMMER_LAB ss1808358345 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1935548140 Feb 12, 2016 (147)
59 GENOMED ss1968189686 Jul 19, 2016 (147)
60 JJLAB ss2028560627 Sep 14, 2016 (149)
61 USC_VALOUEV ss2156968659 Nov 08, 2017 (151)
62 HUMAN_LONGEVITY ss2209580852 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2628775331 Nov 08, 2017 (151)
64 GRF ss2701459022 Nov 08, 2017 (151)
65 GNOMAD ss2938837550 Nov 08, 2017 (151)
66 SWEGEN ss3013847559 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3028105077 Nov 08, 2017 (151)
68 CSHL ss3351271347 Nov 08, 2017 (151)
69 ILLUMINA ss3627446035 Oct 12, 2018 (152)
70 ILLUMINA ss3638106183 Oct 12, 2018 (152)
71 ILLUMINA ss3639065712 Oct 12, 2018 (152)
72 ILLUMINA ss3639538661 Oct 12, 2018 (152)
73 ILLUMINA ss3643088813 Oct 12, 2018 (152)
74 OMUKHERJEE_ADBS ss3646481390 Oct 12, 2018 (152)
75 URBANLAB ss3650432418 Oct 12, 2018 (152)
76 EGCUT_WGS ss3680981529 Jul 13, 2019 (153)
77 EVA_DECODE ss3698578754 Jul 13, 2019 (153)
78 EVA_DECODE ss3698578755 Jul 13, 2019 (153)
79 ACPOP ss3741222086 Jul 13, 2019 (153)
80 EVA ss3753518788 Jul 13, 2019 (153)
81 PACBIO ss3787944035 Jul 13, 2019 (153)
82 PACBIO ss3792940901 Jul 13, 2019 (153)
83 PACBIO ss3797825585 Jul 13, 2019 (153)
84 KHV_HUMAN_GENOMES ss3818820769 Jul 13, 2019 (153)
85 EVA ss3825867184 Apr 27, 2020 (154)
86 EVA ss3834407760 Apr 27, 2020 (154)
87 EVA ss3840807993 Apr 27, 2020 (154)
88 EVA ss3846298413 Apr 27, 2020 (154)
89 HGDP ss3847535386 Apr 27, 2020 (154)
90 SGDP_PRJ ss3883647530 Apr 27, 2020 (154)
91 KRGDB ss3932909384 Apr 27, 2020 (154)
92 KOGIC ss3976852852 Apr 27, 2020 (154)
93 FSA-LAB ss3984081665 Apr 26, 2021 (155)
94 EVA ss3985738622 Apr 26, 2021 (155)
95 EVA ss3986664127 Apr 26, 2021 (155)
96 TOPMED ss5003423542 Apr 26, 2021 (155)
97 TOMMO_GENOMICS ss5217803920 Apr 26, 2021 (155)
98 1000G_HIGH_COVERAGE ss5299661352 Oct 17, 2022 (156)
99 1000G_HIGH_COVERAGE ss5299661353 Oct 17, 2022 (156)
100 EVA ss5421462539 Oct 17, 2022 (156)
101 HUGCELL_USP ss5493252865 Oct 17, 2022 (156)
102 EVA ss5511533433 Oct 17, 2022 (156)
103 1000G_HIGH_COVERAGE ss5601670036 Oct 17, 2022 (156)
104 EVA ss5624057022 Oct 17, 2022 (156)
105 SANFORD_IMAGENETICS ss5658197760 Oct 17, 2022 (156)
106 TOMMO_GENOMICS ss5772093059 Oct 17, 2022 (156)
107 EVA ss5799454812 Oct 17, 2022 (156)
108 EVA ss5800196532 Oct 17, 2022 (156)
109 YY_MCH ss5815639492 Oct 17, 2022 (156)
110 EVA ss5828673052 Oct 17, 2022 (156)
111 EVA ss5848411682 Oct 17, 2022 (156)
112 EVA ss5851435809 Oct 17, 2022 (156)
113 EVA ss5936561595 Oct 17, 2022 (156)
114 EVA ss5949626554 Oct 17, 2022 (156)
115 1000Genomes NC_000015.9 - 99478713 Oct 12, 2018 (152)
116 1000Genomes_30x NC_000015.10 - 98935484 Oct 17, 2022 (156)
117 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 99478713 Oct 12, 2018 (152)
118 Genetic variation in the Estonian population NC_000015.9 - 99478713 Oct 12, 2018 (152)
119 The Danish reference pan genome NC_000015.9 - 99478713 Apr 27, 2020 (154)
120 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 479114781 (NC_000015.10:98935483:T:C 56857/139986)
Row 479114782 (NC_000015.10:98935483:T:G 3/140048)

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

Submission ignored due to conflicting rows:
Row 479114781 (NC_000015.10:98935483:T:C 56857/139986)
Row 479114782 (NC_000015.10:98935483:T:G 3/140048)

- Apr 26, 2021 (155)
122 Genome of the Netherlands Release 5 NC_000015.9 - 99478713 Apr 27, 2020 (154)
123 HGDP-CEPH-db Supplement 1 NC_000015.8 - 97296236 Apr 27, 2020 (154)
124 HapMap NC_000015.10 - 98935484 Apr 27, 2020 (154)
125 KOREAN population from KRGDB NC_000015.9 - 99478713 Apr 27, 2020 (154)
126 Korean Genome Project NC_000015.10 - 98935484 Apr 27, 2020 (154)
127 Medical Genome Project healthy controls from Spanish population NC_000015.9 - 99478713 Apr 27, 2020 (154)
128 Northern Sweden NC_000015.9 - 99478713 Jul 13, 2019 (153)
129 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000015.9 - 99478713 Apr 26, 2021 (155)
130 Qatari NC_000015.9 - 99478713 Apr 27, 2020 (154)
131 SGDP_PRJ NC_000015.9 - 99478713 Apr 27, 2020 (154)
132 Siberian NC_000015.9 - 99478713 Apr 27, 2020 (154)
133 8.3KJPN NC_000015.9 - 99478713 Apr 26, 2021 (155)
134 14KJPN NC_000015.10 - 98935484 Oct 17, 2022 (156)
135 TopMed NC_000015.10 - 98935484 Apr 26, 2021 (155)
136 UK 10K study - Twins NC_000015.9 - 99478713 Oct 12, 2018 (152)
137 A Vietnamese Genetic Variation Database NC_000015.9 - 99478713 Jul 13, 2019 (153)
138 ALFA NC_000015.10 - 98935484 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)
rs45550637 Apr 25, 2013 (138)
rs58439020 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
213278, ss77356856, ss81369238, ss90273164, ss118354725, ss171599340, ss201262010, ss244289558, ss255245463, ss282387514, ss287012924, ss291787747, ss825458044, ss1696177277, ss1713516491, ss3639065712, ss3639538661, ss3643088813, ss3847535386 NC_000015.8:97296235:T:C NC_000015.10:98935483:T:C (self)
67968416, 37750320, 26719777, 3996697, 16842984, 40086778, 526889, 14506951, 964549, 17590062, 35664510, 9485013, 75773227, 37750320, 8391299, ss227071066, ss236903303, ss243266936, ss537072166, ss564691692, ss660434990, ss832890338, ss833481168, ss992145313, ss1080387739, ss1354847267, ss1427735950, ss1577778737, ss1633737942, ss1676731975, ss1711411129, ss1808358345, ss1935548140, ss1968189686, ss2028560627, ss2156968659, ss2628775331, ss2701459022, ss2938837550, ss3013847559, ss3351271347, ss3627446035, ss3638106183, ss3646481390, ss3680981529, ss3741222086, ss3753518788, ss3787944035, ss3792940901, ss3797825585, ss3825867184, ss3834407760, ss3840807993, ss3883647530, ss3932909384, ss3984081665, ss3985738622, ss3986664127, ss5217803920, ss5421462539, ss5511533433, ss5624057022, ss5658197760, ss5799454812, ss5800196532, ss5828673052, ss5848411682, ss5936561595, ss5949626554 NC_000015.9:99478712:T:C NC_000015.10:98935483:T:C (self)
89195971, 1327730, 33230853, 105930163, 218969202, 373960438, ss2209580852, ss3028105077, ss3650432418, ss3698578754, ss3818820769, ss3846298413, ss3976852852, ss5003423542, ss5299661352, ss5493252865, ss5601670036, ss5772093059, ss5815639492, ss5851435809 NC_000015.10:98935483:T:C NC_000015.10:98935483:T:C (self)
ss3236026, ss23485860, ss46533854, ss65997338, ss66612725, ss67243470, ss67640327, ss70456249, ss70458168, ss70721811, ss71290248, ss75481277, ss76865477, ss79127526, ss84025455, ss95210296, ss95216799, ss121991135, ss136523049, ss142503357, ss153900723, ss156933107, ss159378542, ss171171367, ss173262945 NT_010274.17:14444239:T:C NC_000015.10:98935483:T:C (self)
ss76898197 NT_035325.6:928563:T:C NC_000015.10:98935483:T:C (self)
ss2938837550 NC_000015.9:99478712:T:G NC_000015.10:98935483:T:G (self)
89195971, 373960438, ss2209580852, ss3698578755, ss5299661353, ss5601670036 NC_000015.10:98935483:T:G NC_000015.10:98935483: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.

2 citations for rs2293117
PMID Title Author Year Journal
20617897 Polymorphisms in maternal and fetal genes encoding for proteins involved in extracellular matrix metabolism alter the risk for small-for-gestational-age. Edwards DR et al. 2011 The journal of maternal-fetal & neonatal medicine
20673868 A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). Romero R et al. 2010 American journal of obstetrics and gynecology
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