Skip to main page content
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.

rs2000174

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6274141 (GRCh38.p13) 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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.456164 (120742/264690, TOPMED)
G=0.470817 (65823/139806, GnomAD)
A=0.45352 (8566/18888, ALFA) (+ 13 more)
G=0.28658 (4803/16760, 8.3KJPN)
G=0.3502 (1754/5008, 1000G)
A=0.3627 (1624/4478, Estonian)
A=0.3827 (1475/3854, ALSPAC)
A=0.3749 (1390/3708, TWINSUK)
G=0.2881 (844/2930, KOREAN)
G=0.3188 (584/1832, Korea1K)
A=0.362 (361/998, GoNL)
A=0.345 (207/600, NorthernSweden)
A=0.359 (110/306, SGDP_PRJ)
G=0.421 (91/216, Qatari)
A=0.18 (8/44, Siberian)
A=0.42 (17/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 10 NC_000010.11:g.6274141A>C
GRCh38.p13 chr 10 NC_000010.11:g.6274141A>G
GRCh38.p13 chr 10 NC_000010.11:g.6274141A>T
GRCh37.p13 chr 10 NC_000010.10:g.6316104A>C
GRCh37.p13 chr 10 NC_000010.10:g.6316104A>G
GRCh37.p13 chr 10 NC_000010.10:g.6316104A>T
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 18888 A=0.45352 G=0.54648
European Sub 14284 A=0.38008 G=0.61992
African Sub 2946 A=0.7553 G=0.2447
African Others Sub 114 A=0.825 G=0.175
African American Sub 2832 A=0.7525 G=0.2475
Asian Sub 112 A=0.768 G=0.232
East Asian Sub 86 A=0.80 G=0.20
Other Asian Sub 26 A=0.65 G=0.35
Latin American 1 Sub 146 A=0.582 G=0.418
Latin American 2 Sub 610 A=0.508 G=0.492
South Asian Sub 98 A=0.64 G=0.36
Other Sub 692 A=0.532 G=0.468


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=0.543836 G=0.456164
gnomAD - Genomes Global Study-wide 139806 A=0.529183 G=0.470817
gnomAD - Genomes European Sub 75744 A=0.39191 G=0.60809
gnomAD - Genomes African Sub 41870 A=0.76083 G=0.23917
gnomAD - Genomes American Sub 13612 A=0.55436 G=0.44564
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.4497 G=0.5503
gnomAD - Genomes East Asian Sub 3118 A=0.7248 G=0.2752
gnomAD - Genomes Other Sub 2144 A=0.5336 G=0.4664
8.3KJPN JAPANESE Study-wide 16760 A=0.71342 G=0.28658
1000Genomes Global Study-wide 5008 A=0.6498 G=0.3502
1000Genomes African Sub 1322 A=0.8245 G=0.1755
1000Genomes East Asian Sub 1008 A=0.7153 G=0.2847
1000Genomes Europe Sub 1006 A=0.4225 G=0.5775
1000Genomes South Asian Sub 978 A=0.641 G=0.359
1000Genomes American Sub 694 A=0.563 G=0.437
Genetic variation in the Estonian population Estonian Study-wide 4478 A=0.3627 G=0.6373
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3827 G=0.6173
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3749 G=0.6251
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.7119 C=0.0000, G=0.2881, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.6812 G=0.3188
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.362 G=0.638
Northern Sweden ACPOP Study-wide 600 A=0.345 G=0.655
SGDP_PRJ Global Study-wide 306 A=0.359 G=0.641
Qatari Global Study-wide 216 A=0.579 G=0.421
Siberian Global Study-wide 44 A=0.18 G=0.82
The Danish reference pan genome Danish Study-wide 40 A=0.42 G=0.57
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= C G T
GRCh38.p13 chr 10 NC_000010.11:g.6274141= NC_000010.11:g.6274141A>C NC_000010.11:g.6274141A>G NC_000010.11:g.6274141A>T
GRCh37.p13 chr 10 NC_000010.10:g.6316104= NC_000010.10:g.6316104A>C NC_000010.10:g.6316104A>G NC_000010.10:g.6316104A>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#.

55 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2914356 Jan 12, 2001 (92)
2 BCM_SSAHASNP ss10619679 Jul 11, 2003 (116)
3 SC_SNP ss16093939 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss19165458 Feb 27, 2004 (120)
5 ABI ss39861459 Mar 15, 2006 (126)
6 ENSEMBL ss131661862 Dec 01, 2009 (131)
7 GMI ss154522807 Dec 01, 2009 (131)
8 ENSEMBL ss161352592 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss168978917 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss170369430 Jul 04, 2010 (132)
11 BCM-HGSC-SUB ss207392702 Jul 04, 2010 (132)
12 1000GENOMES ss235038094 Jul 15, 2010 (132)
13 1000GENOMES ss241773910 Jul 15, 2010 (132)
14 BL ss254025851 May 09, 2011 (134)
15 GMI ss280464775 May 04, 2012 (137)
16 GMI ss286122489 Apr 25, 2013 (138)
17 PJP ss290900171 May 09, 2011 (134)
18 TISHKOFF ss561745432 Apr 25, 2013 (138)
19 SSMP ss656251664 Apr 25, 2013 (138)
20 EVA-GONL ss987157351 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1076731740 Aug 21, 2014 (142)
22 1000GENOMES ss1336130262 Aug 21, 2014 (142)
23 DDI ss1426208857 Apr 01, 2015 (144)
24 EVA_GENOME_DK ss1574889267 Apr 01, 2015 (144)
25 EVA_DECODE ss1596805320 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1623911846 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1666905879 Apr 01, 2015 (144)
28 HAMMER_LAB ss1806238318 Sep 08, 2015 (146)
29 WEILL_CORNELL_DGM ss1930478278 Feb 12, 2016 (147)
30 JJLAB ss2025962280 Sep 14, 2016 (149)
31 USC_VALOUEV ss2154204314 Dec 20, 2016 (150)
32 TOPMED ss2335067874 Dec 20, 2016 (150)
33 SYSTEMSBIOZJU ss2627450045 Nov 08, 2017 (151)
34 GRF ss2698428225 Nov 08, 2017 (151)
35 GNOMAD ss2885105577 Nov 08, 2017 (151)
36 SWEGEN ss3005875677 Nov 08, 2017 (151)
37 BIOINF_KMB_FNS_UNIBA ss3026764654 Nov 08, 2017 (151)
38 TOPMED ss3110664898 Nov 08, 2017 (151)
39 CSHL ss3348941961 Nov 08, 2017 (151)
40 EGCUT_WGS ss3673402799 Jul 13, 2019 (153)
41 EVA_DECODE ss3689206639 Jul 13, 2019 (153)
42 ACPOP ss3737026960 Jul 13, 2019 (153)
43 EVA ss3747699716 Jul 13, 2019 (153)
44 PACBIO ss3786570213 Jul 13, 2019 (153)
45 PACBIO ss3791764101 Jul 13, 2019 (153)
46 PACBIO ss3796645881 Jul 13, 2019 (153)
47 KHV_HUMAN_GENOMES ss3813062677 Jul 13, 2019 (153)
48 EVA ss3831947047 Apr 26, 2020 (154)
49 EVA ss3839504361 Apr 26, 2020 (154)
50 EVA ss3844970343 Apr 26, 2020 (154)
51 SGDP_PRJ ss3873453562 Apr 26, 2020 (154)
52 KRGDB ss3921389031 Apr 26, 2020 (154)
53 KOGIC ss3967131433 Apr 26, 2020 (154)
54 TOPMED ss4841244078 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5196096988 Apr 26, 2021 (155)
56 1000Genomes NC_000010.10 - 6316104 Oct 12, 2018 (152)
57 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6316104 Oct 12, 2018 (152)
58 Genetic variation in the Estonian population NC_000010.10 - 6316104 Oct 12, 2018 (152)
59 The Danish reference pan genome NC_000010.10 - 6316104 Apr 26, 2020 (154)
60 gnomAD - Genomes NC_000010.11 - 6274141 Apr 26, 2021 (155)
61 Genome of the Netherlands Release 5 NC_000010.10 - 6316104 Apr 26, 2020 (154)
62 KOREAN population from KRGDB NC_000010.10 - 6316104 Apr 26, 2020 (154)
63 Korean Genome Project NC_000010.11 - 6274141 Apr 26, 2020 (154)
64 Northern Sweden NC_000010.10 - 6316104 Jul 13, 2019 (153)
65 Qatari NC_000010.10 - 6316104 Apr 26, 2020 (154)
66 SGDP_PRJ NC_000010.10 - 6316104 Apr 26, 2020 (154)
67 Siberian NC_000010.10 - 6316104 Apr 26, 2020 (154)
68 8.3KJPN NC_000010.10 - 6316104 Apr 26, 2021 (155)
69 TopMed NC_000010.11 - 6274141 Apr 26, 2021 (155)
70 UK 10K study - Twins NC_000010.10 - 6316104 Oct 12, 2018 (152)
71 ALFA NC_000010.11 - 6274141 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
28566425, ss3921389031 NC_000010.10:6316103:A:C NC_000010.11:6274140:A:C (self)
ss168978917, ss170369430, ss207392702, ss254025851, ss280464775, ss286122489, ss290900171, ss1596805320 NC_000010.9:6356109:A:G NC_000010.11:6274140:A:G (self)
48471579, 26932255, 19141047, 2014470, 12012235, 28566425, 10311825, 12520208, 25470542, 6720668, 54066295, 26932255, ss235038094, ss241773910, ss561745432, ss656251664, ss987157351, ss1076731740, ss1336130262, ss1426208857, ss1574889267, ss1623911846, ss1666905879, ss1806238318, ss1930478278, ss2025962280, ss2154204314, ss2335067874, ss2627450045, ss2698428225, ss2885105577, ss3005875677, ss3348941961, ss3673402799, ss3737026960, ss3747699716, ss3786570213, ss3791764101, ss3796645881, ss3831947047, ss3839504361, ss3873453562, ss3921389031, ss5196096988 NC_000010.10:6316103:A:G NC_000010.11:6274140:A:G (self)
342416765, 23509434, 35684506, 56789733, 3111168734, ss3026764654, ss3110664898, ss3689206639, ss3813062677, ss3844970343, ss3967131433, ss4841244078 NC_000010.11:6274140:A:G NC_000010.11:6274140:A:G (self)
ss2914356, ss39861459, ss131661862, ss154522807, ss161352592 NT_008705.16:6256103:A:G NC_000010.11:6274140:A:G (self)
ss10619679, ss16093939, ss19165458 NT_077569.2:678999:A:G NC_000010.11:6274140:A:G (self)
28566425, ss3921389031 NC_000010.10:6316103:A:T NC_000010.11:6274140: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 rs2000174

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.post596+ae089ad