Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs113

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:24405439 (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
A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.334750 (88605/264690, TOPMED)
T=0.337336 (47256/140086, GnomAD)
T=0.46369 (13103/28258, 14KJPN) (+ 16 more)
T=0.34833 (6580/18890, ALFA)
T=0.46700 (7826/16758, 8.3KJPN)
T=0.3502 (2243/6404, 1000G_30x)
T=0.3590 (1798/5008, 1000G)
T=0.3594 (1610/4480, Estonian)
T=0.3752 (1446/3854, ALSPAC)
T=0.3881 (1439/3708, TWINSUK)
T=0.4239 (1242/2930, KOREAN)
T=0.351 (350/998, GoNL)
T=0.415 (249/600, NorthernSweden)
A=0.404 (135/334, SGDP_PRJ)
T=0.306 (66/216, Qatari)
T=0.278 (59/212, HapMap)
T=0.307 (65/212, Vietnamese)
T=0.45 (18/40, GENOME_DK)
A=0.35 (12/34, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC107986777 : 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 18890 A=0.65167 T=0.34833
European Sub 14286 A=0.63881 T=0.36119
African Sub 2946 A=0.6962 T=0.3038
African Others Sub 114 A=0.684 T=0.316
African American Sub 2832 A=0.6967 T=0.3033
Asian Sub 112 A=0.652 T=0.348
East Asian Sub 86 A=0.63 T=0.37
Other Asian Sub 26 A=0.73 T=0.27
Latin American 1 Sub 146 A=0.747 T=0.253
Latin American 2 Sub 610 A=0.715 T=0.285
South Asian Sub 98 A=0.63 T=0.37
Other Sub 692 A=0.655 T=0.345


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 A=0.665250 T=0.334750
gnomAD - Genomes Global Study-wide 140086 A=0.662664 T=0.337336
gnomAD - Genomes European Sub 75872 A=0.63869 T=0.36131
gnomAD - Genomes African Sub 41978 A=0.69441 T=0.30559
gnomAD - Genomes American Sub 13648 A=0.71358 T=0.28642
gnomAD - Genomes Ashkenazi Jewish Sub 3314 A=0.6470 T=0.3530
gnomAD - Genomes East Asian Sub 3120 A=0.6154 T=0.3846
gnomAD - Genomes Other Sub 2154 A=0.6583 T=0.3417
14KJPN JAPANESE Study-wide 28258 A=0.53631 T=0.46369
Allele Frequency Aggregator Total Global 18890 A=0.65167 T=0.34833
Allele Frequency Aggregator European Sub 14286 A=0.63881 T=0.36119
Allele Frequency Aggregator African Sub 2946 A=0.6962 T=0.3038
Allele Frequency Aggregator Other Sub 692 A=0.655 T=0.345
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.715 T=0.285
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.747 T=0.253
Allele Frequency Aggregator Asian Sub 112 A=0.652 T=0.348
Allele Frequency Aggregator South Asian Sub 98 A=0.63 T=0.37
8.3KJPN JAPANESE Study-wide 16758 A=0.53300 T=0.46700
1000Genomes_30x Global Study-wide 6404 A=0.6498 T=0.3502
1000Genomes_30x African Sub 1786 A=0.7105 T=0.2895
1000Genomes_30x Europe Sub 1266 A=0.6256 T=0.3744
1000Genomes_30x South Asian Sub 1202 A=0.5874 T=0.4126
1000Genomes_30x East Asian Sub 1170 A=0.5846 T=0.4154
1000Genomes_30x American Sub 980 A=0.724 T=0.276
1000Genomes Global Study-wide 5008 A=0.6410 T=0.3590
1000Genomes African Sub 1322 A=0.7035 T=0.2965
1000Genomes East Asian Sub 1008 A=0.5774 T=0.4226
1000Genomes Europe Sub 1006 A=0.6193 T=0.3807
1000Genomes South Asian Sub 978 A=0.584 T=0.416
1000Genomes American Sub 694 A=0.726 T=0.274
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6406 T=0.3594
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6248 T=0.3752
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6119 T=0.3881
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5761 T=0.4239
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.649 T=0.351
Northern Sweden ACPOP Study-wide 600 A=0.585 T=0.415
SGDP_PRJ Global Study-wide 334 A=0.404 T=0.596
Qatari Global Study-wide 216 A=0.694 T=0.306
HapMap Global Study-wide 212 A=0.722 T=0.278
HapMap American Sub 112 A=0.688 T=0.312
HapMap African Sub 100 A=0.76 T=0.24
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.693 T=0.307
The Danish reference pan genome Danish Study-wide 40 A=0.55 T=0.45
Siberian Global Study-wide 34 A=0.35 T=0.65
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.24405439A>T
GRCh37.p13 chr 7 NC_000007.13:g.24445058A>T
Gene: LOC107986777, uncharacterized LOC107986777 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107986777 transcript variant X3 XR_001745121.2:n. N/A Intron Variant
LOC107986777 transcript variant X7 XR_001745122.2:n. N/A Intron Variant
LOC107986777 transcript variant X8 XR_001745123.2:n. N/A Intron Variant
LOC107986777 transcript variant X10 XR_001745124.2:n. N/A Intron Variant
LOC107986777 transcript variant X11 XR_001745125.2:n. N/A Intron Variant
LOC107986777 transcript variant X13 XR_001745127.2:n. N/A Intron Variant
LOC107986777 transcript variant X9 XR_001745129.2:n. N/A Intron Variant
LOC107986777 transcript variant X4 XR_001745130.2:n. N/A Intron Variant
LOC107986777 transcript variant X14 XR_001745131.2:n. N/A Intron Variant
LOC107986777 transcript variant X15 XR_001745132.2:n. N/A Intron Variant
LOC107986777 transcript variant X1 XR_007060254.1:n. N/A Intron Variant
LOC107986777 transcript variant X2 XR_007060255.1:n. N/A Intron Variant
LOC107986777 transcript variant X5 XR_007060256.1:n. N/A Intron Variant
LOC107986777 transcript variant X6 XR_007060257.1:n. N/A Intron Variant
LOC107986777 transcript variant X12 XR_001745128.2:n. N/A Genic Upstream Transcript Variant
LOC107986777 transcript variant X16 XR_007060258.1: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 A= T
GRCh38.p14 chr 7 NC_000007.14:g.24405439= NC_000007.14:g.24405439A>T
GRCh37.p13 chr 7 NC_000007.13:g.24445058= NC_000007.13:g.24445058A>T
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#.

69 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss113 Sep 19, 2000 (36)
2 WUGSC_SSAHASNP ss14591958 Dec 05, 2003 (120)
3 CSHL-HAPMAP ss19734626 Feb 27, 2004 (120)
4 SSAHASNP ss22647621 Apr 05, 2004 (121)
5 ABI ss44799220 Mar 13, 2006 (126)
6 PERLEGEN ss69009514 May 18, 2007 (127)
7 HGSV ss85925539 Dec 15, 2007 (130)
8 HUMANGENOME_JCVI ss98240412 Feb 06, 2009 (130)
9 1000GENOMES ss113473514 Jan 25, 2009 (130)
10 ENSEMBL ss142483101 Dec 01, 2009 (131)
11 GMI ss154524381 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss163842079 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss166289353 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss208147475 Jul 04, 2010 (132)
15 1000GENOMES ss222966536 Jul 14, 2010 (132)
16 1000GENOMES ss233892746 Jul 15, 2010 (132)
17 1000GENOMES ss240864890 Jul 15, 2010 (132)
18 GMI ss279227903 May 04, 2012 (137)
19 GMI ss285592046 Apr 25, 2013 (138)
20 PJP ss294031761 May 09, 2011 (134)
21 TISHKOFF ss559873298 Apr 25, 2013 (138)
22 SSMP ss654226486 Apr 25, 2013 (138)
23 EVA-GONL ss984059855 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1074448183 Aug 21, 2014 (142)
25 1000GENOMES ss1324331318 Aug 21, 2014 (142)
26 DDI ss1431060316 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1582114951 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1617785954 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1660779987 Apr 01, 2015 (144)
30 HAMMER_LAB ss1804915365 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1927305195 Feb 12, 2016 (147)
32 GENOMED ss1970650729 Jul 19, 2016 (147)
33 JJLAB ss2024329344 Sep 14, 2016 (149)
34 USC_VALOUEV ss2152525582 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2292495029 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2626653756 Nov 08, 2017 (151)
37 GRF ss2708182549 Nov 08, 2017 (151)
38 GNOMAD ss2850887731 Nov 08, 2017 (151)
39 SWEGEN ss3000788292 Nov 08, 2017 (151)
40 BIOINF_KMB_FNS_UNIBA ss3025958996 Nov 08, 2017 (151)
41 CSHL ss3347486386 Nov 08, 2017 (151)
42 URBANLAB ss3648585198 Oct 12, 2018 (152)
43 EGCUT_WGS ss3668716742 Jul 13, 2019 (153)
44 EVA_DECODE ss3719297153 Jul 13, 2019 (153)
45 ACPOP ss3734448469 Jul 13, 2019 (153)
46 EVA ss3766312042 Jul 13, 2019 (153)
47 PACBIO ss3785759932 Jul 13, 2019 (153)
48 PACBIO ss3791070512 Jul 13, 2019 (153)
49 PACBIO ss3795950274 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3809479513 Jul 13, 2019 (153)
51 EVA ss3830468519 Apr 26, 2020 (154)
52 EVA ss3838721626 Apr 26, 2020 (154)
53 EVA ss3844172863 Apr 26, 2020 (154)
54 SGDP_PRJ ss3866845567 Apr 26, 2020 (154)
55 KRGDB ss3913883326 Apr 26, 2020 (154)
56 TOPMED ss4739049556 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5182253352 Apr 26, 2021 (155)
58 1000G_HIGH_COVERAGE ss5272179577 Oct 14, 2022 (156)
59 EVA ss5372283744 Oct 14, 2022 (156)
60 HUGCELL_USP ss5469429052 Oct 14, 2022 (156)
61 EVA ss5508884142 Oct 14, 2022 (156)
62 1000G_HIGH_COVERAGE ss5559998745 Oct 14, 2022 (156)
63 SANFORD_IMAGENETICS ss5642549264 Oct 14, 2022 (156)
64 TOMMO_GENOMICS ss5721831046 Oct 14, 2022 (156)
65 YY_MCH ss5808424074 Oct 14, 2022 (156)
66 EVA ss5822545804 Oct 14, 2022 (156)
67 EVA ss5855807967 Oct 14, 2022 (156)
68 EVA ss5858108300 Oct 14, 2022 (156)
69 EVA ss5971749000 Oct 14, 2022 (156)
70 1000Genomes NC_000007.13 - 24445058 Oct 12, 2018 (152)
71 1000Genomes_30x NC_000007.14 - 24405439 Oct 14, 2022 (156)
72 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 24445058 Oct 12, 2018 (152)
73 Genetic variation in the Estonian population NC_000007.13 - 24445058 Oct 12, 2018 (152)
74 The Danish reference pan genome NC_000007.13 - 24445058 Apr 26, 2020 (154)
75 gnomAD - Genomes NC_000007.14 - 24405439 Apr 26, 2021 (155)
76 Genome of the Netherlands Release 5 NC_000007.13 - 24445058 Apr 26, 2020 (154)
77 HapMap NC_000007.14 - 24405439 Apr 26, 2020 (154)
78 KOREAN population from KRGDB NC_000007.13 - 24445058 Apr 26, 2020 (154)
79 Northern Sweden NC_000007.13 - 24445058 Jul 13, 2019 (153)
80 Qatari NC_000007.13 - 24445058 Apr 26, 2020 (154)
81 SGDP_PRJ NC_000007.13 - 24445058 Apr 26, 2020 (154)
82 Siberian NC_000007.13 - 24445058 Apr 26, 2020 (154)
83 8.3KJPN NC_000007.13 - 24445058 Apr 26, 2021 (155)
84 14KJPN NC_000007.14 - 24405439 Oct 14, 2022 (156)
85 TopMed NC_000007.14 - 24405439 Apr 26, 2021 (155)
86 UK 10K study - Twins NC_000007.13 - 24445058 Oct 12, 2018 (152)
87 A Vietnamese Genetic Variation Database NC_000007.13 - 24445058 Jul 13, 2019 (153)
88 ALFA NC_000007.14 - 24405439 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)
rs10386331 Feb 27, 2004 (120)
rs60549088 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85925539 NC_000007.11:24218297:A:T NC_000007.14:24405438:A:T (self)
ss113473514, ss163842079, ss166289353, ss208147475, ss279227903, ss285592046, ss294031761 NC_000007.12:24411582:A:T NC_000007.14:24405438:A:T (self)
36272725, 20221086, 14454990, 8279890, 9015583, 21060720, 7733334, 9347125, 18862547, 5041936, 40222659, 20221086, 4505682, ss222966536, ss233892746, ss240864890, ss559873298, ss654226486, ss984059855, ss1074448183, ss1324331318, ss1431060316, ss1582114951, ss1617785954, ss1660779987, ss1804915365, ss1927305195, ss1970650729, ss2024329344, ss2152525582, ss2626653756, ss2708182549, ss2850887731, ss3000788292, ss3347486386, ss3668716742, ss3734448469, ss3766312042, ss3785759932, ss3791070512, ss3795950274, ss3830468519, ss3838721626, ss3866845567, ss3913883326, ss5182253352, ss5372283744, ss5508884142, ss5642549264, ss5822545804, ss5971749000 NC_000007.13:24445057:A:T NC_000007.14:24405438:A:T (self)
47524680, 255765382, 3358027, 55668150, 576427115, 11524573578, ss2292495029, ss3025958996, ss3648585198, ss3719297153, ss3809479513, ss3844172863, ss4739049556, ss5272179577, ss5469429052, ss5559998745, ss5721831046, ss5808424074, ss5855807967, ss5858108300 NC_000007.14:24405438:A:T NC_000007.14:24405438:A:T (self)
ss14591958, ss19734626, ss22647621 NT_007819.14:23738665:A:T NC_000007.14:24405438:A:T (self)
ss113, ss44799220, ss69009514, ss98240412, ss142483101, ss154524381 NT_007819.17:24435057:A:T NC_000007.14:24405438:A:T (self)
Help

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

No publications for rs113

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