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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.

rs10927155

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:244196043 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.250655 (66346/264690, TOPMED)
A=0.35922 (10150/28256, 14KJPN)
A=0.35656 (5976/16760, 8.3KJPN) (+ 15 more)
A=0.10229 (1427/13950, ALFA)
A=0.3145 (2014/6404, 1000G_30x)
A=0.3189 (1597/5008, 1000G)
A=0.1917 (859/4480, Estonian)
A=0.2154 (830/3854, ALSPAC)
A=0.2168 (804/3708, TWINSUK)
A=0.3290 (964/2930, KOREAN)
A=0.211 (211/998, GoNL)
A=0.217 (130/600, NorthernSweden)
T=0.391 (126/322, SGDP_PRJ)
A=0.431 (93/216, Qatari)
A=0.430 (92/214, Vietnamese)
A=0.20 (8/40, GENOME_DK)
T=0.50 (11/22, Siberian)
A=0.50 (11/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 13950 T=0.89771 A=0.10229, C=0.00000
European Sub 11144 T=0.87958 A=0.12042, C=0.00000
African Sub 2002 T=0.9895 A=0.0105, C=0.0000
African Others Sub 80 T=0.99 A=0.01, C=0.00
African American Sub 1922 T=0.9896 A=0.0104, C=0.0000
Asian Sub 48 T=0.96 A=0.04, C=0.00
East Asian Sub 36 T=1.00 A=0.00, C=0.00
Other Asian Sub 12 T=0.83 A=0.17, C=0.00
Latin American 1 Sub 76 T=1.00 A=0.00, C=0.00
Latin American 2 Sub 186 T=1.000 A=0.000, C=0.000
South Asian Sub 24 T=0.92 A=0.08, C=0.00
Other Sub 470 T=0.872 A=0.128, C=0.000


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=0.749345 A=0.250655
14KJPN JAPANESE Study-wide 28256 T=0.64078 A=0.35922
8.3KJPN JAPANESE Study-wide 16760 T=0.64344 A=0.35656
Allele Frequency Aggregator Total Global 13950 T=0.89771 A=0.10229, C=0.00000
Allele Frequency Aggregator European Sub 11144 T=0.87958 A=0.12042, C=0.00000
Allele Frequency Aggregator African Sub 2002 T=0.9895 A=0.0105, C=0.0000
Allele Frequency Aggregator Other Sub 470 T=0.872 A=0.128, C=0.000
Allele Frequency Aggregator Latin American 2 Sub 186 T=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 76 T=1.00 A=0.00, C=0.00
Allele Frequency Aggregator Asian Sub 48 T=0.96 A=0.04, C=0.00
Allele Frequency Aggregator South Asian Sub 24 T=0.92 A=0.08, C=0.00
1000Genomes_30x Global Study-wide 6404 T=0.6855 A=0.3145
1000Genomes_30x African Sub 1786 T=0.8247 A=0.1753
1000Genomes_30x Europe Sub 1266 T=0.7686 A=0.2314
1000Genomes_30x South Asian Sub 1202 T=0.5216 A=0.4784
1000Genomes_30x East Asian Sub 1170 T=0.5855 A=0.4145
1000Genomes_30x American Sub 980 T=0.645 A=0.355
1000Genomes Global Study-wide 5008 T=0.6811 A=0.3189
1000Genomes African Sub 1322 T=0.8283 A=0.1717
1000Genomes East Asian Sub 1008 T=0.5764 A=0.4236
1000Genomes Europe Sub 1006 T=0.7714 A=0.2286
1000Genomes South Asian Sub 978 T=0.521 A=0.479
1000Genomes American Sub 694 T=0.647 A=0.353
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8083 A=0.1917
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7846 A=0.2154
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7832 A=0.2168
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6710 A=0.3290
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.789 A=0.211
Northern Sweden ACPOP Study-wide 600 T=0.783 A=0.217
SGDP_PRJ Global Study-wide 322 T=0.391 A=0.609
Qatari Global Study-wide 216 T=0.569 A=0.431
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.570 A=0.430
The Danish reference pan genome Danish Study-wide 40 T=0.80 A=0.20
Siberian Global Study-wide 22 T=0.50 A=0.50
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 1 NC_000001.11:g.244196043T>A
GRCh38.p14 chr 1 NC_000001.11:g.244196043T>C
GRCh37.p13 chr 1 NC_000001.10:g.244359345T>A
GRCh37.p13 chr 1 NC_000001.10:g.244359345T>C
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= A C
GRCh38.p14 chr 1 NC_000001.11:g.244196043= NC_000001.11:g.244196043T>A NC_000001.11:g.244196043T>C
GRCh37.p13 chr 1 NC_000001.10:g.244359345= NC_000001.10:g.244359345T>A NC_000001.10:g.244359345T>C
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#.

56 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18076386 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss19835086 Feb 27, 2004 (120)
3 ABI ss39681185 Mar 15, 2006 (126)
4 HGSV ss78482799 Dec 06, 2007 (129)
5 BGI ss102840043 Dec 01, 2009 (131)
6 ENSEMBL ss161237171 Dec 01, 2009 (131)
7 COMPLETE_GENOMICS ss165946564 Jul 04, 2010 (132)
8 BCM-HGSC-SUB ss205526445 Jul 04, 2010 (132)
9 GMI ss276299032 May 04, 2012 (137)
10 PJP ss290775754 May 09, 2011 (134)
11 1000GENOMES ss329346729 May 09, 2011 (134)
12 TISHKOFF ss555268538 Apr 25, 2013 (138)
13 SSMP ss648844670 Apr 25, 2013 (138)
14 EVA-GONL ss976355558 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1068760618 Aug 21, 2014 (142)
16 1000GENOMES ss1295428422 Aug 21, 2014 (142)
17 DDI ss1426175153 Apr 01, 2015 (144)
18 EVA_GENOME_DK ss1574815560 Apr 01, 2015 (144)
19 EVA_DECODE ss1585759426 Apr 01, 2015 (144)
20 EVA_UK10K_ALSPAC ss1602553859 Apr 01, 2015 (144)
21 EVA_UK10K_TWINSUK ss1645547892 Apr 01, 2015 (144)
22 HAMMER_LAB ss1796031922 Sep 08, 2015 (146)
23 WEILL_CORNELL_DGM ss1919578464 Feb 12, 2016 (147)
24 JJLAB ss2020316805 Sep 14, 2016 (149)
25 USC_VALOUEV ss2148355193 Dec 20, 2016 (150)
26 HUMAN_LONGEVITY ss2171662958 Dec 20, 2016 (150)
27 SYSTEMSBIOZJU ss2624672155 Nov 08, 2017 (151)
28 GRF ss2698361200 Nov 08, 2017 (151)
29 GNOMAD ss2768403300 Nov 08, 2017 (151)
30 SWEGEN ss2988775436 Nov 08, 2017 (151)
31 BIOINF_KMB_FNS_UNIBA ss3023920887 Nov 08, 2017 (151)
32 CSHL ss3344008092 Nov 08, 2017 (151)
33 EGCUT_WGS ss3656731940 Jul 12, 2019 (153)
34 EVA_DECODE ss3689020932 Jul 12, 2019 (153)
35 ACPOP ss3728039731 Jul 12, 2019 (153)
36 EVA ss3747581530 Jul 12, 2019 (153)
37 KHV_HUMAN_GENOMES ss3800584589 Jul 12, 2019 (153)
38 EVA ss3826750419 Apr 25, 2020 (154)
39 EVA ss3836778701 Apr 25, 2020 (154)
40 EVA ss3842191782 Apr 25, 2020 (154)
41 SGDP_PRJ ss3851312309 Apr 25, 2020 (154)
42 KRGDB ss3896677714 Apr 25, 2020 (154)
43 TOPMED ss4490289244 Apr 25, 2021 (155)
44 TOMMO_GENOMICS ss5149324740 Apr 25, 2021 (155)
45 1000G_HIGH_COVERAGE ss5246482098 Oct 12, 2022 (156)
46 EVA ss5326031833 Oct 12, 2022 (156)
47 HUGCELL_USP ss5446848963 Oct 12, 2022 (156)
48 1000G_HIGH_COVERAGE ss5520918312 Oct 12, 2022 (156)
49 SANFORD_IMAGENETICS ss5627841565 Oct 12, 2022 (156)
50 TOMMO_GENOMICS ss5677341994 Oct 12, 2022 (156)
51 YY_MCH ss5801817097 Oct 12, 2022 (156)
52 EVA ss5833541600 Oct 12, 2022 (156)
53 EVA ss5849375491 Oct 12, 2022 (156)
54 EVA ss5912753220 Oct 12, 2022 (156)
55 EVA ss5939690178 Oct 12, 2022 (156)
56 EVA ss5980028421 Oct 12, 2022 (156)
57 1000Genomes NC_000001.10 - 244359345 Oct 11, 2018 (152)
58 1000Genomes_30x NC_000001.11 - 244196043 Oct 12, 2022 (156)
59 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 244359345 Oct 11, 2018 (152)
60 Genetic variation in the Estonian population NC_000001.10 - 244359345 Oct 11, 2018 (152)
61 The Danish reference pan genome NC_000001.10 - 244359345 Apr 25, 2020 (154)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45140899 (NC_000001.11:244196042:T:A 31980/140032)
Row 45140900 (NC_000001.11:244196042:T:C 2/140092)

- Apr 25, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 45140899 (NC_000001.11:244196042:T:A 31980/140032)
Row 45140900 (NC_000001.11:244196042:T:C 2/140092)

- Apr 25, 2021 (155)
64 Genome of the Netherlands Release 5 NC_000001.10 - 244359345 Apr 25, 2020 (154)
65 KOREAN population from KRGDB NC_000001.10 - 244359345 Apr 25, 2020 (154)
66 Northern Sweden NC_000001.10 - 244359345 Jul 12, 2019 (153)
67 Qatari NC_000001.10 - 244359345 Apr 25, 2020 (154)
68 SGDP_PRJ NC_000001.10 - 244359345 Apr 25, 2020 (154)
69 Siberian NC_000001.10 - 244359345 Apr 25, 2020 (154)
70 8.3KJPN NC_000001.10 - 244359345 Apr 25, 2021 (155)
71 14KJPN NC_000001.11 - 244196043 Oct 12, 2022 (156)
72 TopMed NC_000001.11 - 244196043 Apr 25, 2021 (155)
73 UK 10K study - Twins NC_000001.10 - 244359345 Oct 11, 2018 (152)
74 A Vietnamese Genetic Variation Database NC_000001.10 - 244359345 Jul 12, 2019 (153)
75 ALFA NC_000001.11 - 244196043 Apr 25, 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
ss78482799 NC_000001.8:240685385:T:A NC_000001.11:244196042:T:A (self)
ss165946564, ss205526445, ss276299032, ss290775754, ss1585759426 NC_000001.9:242425967:T:A NC_000001.11:244196042:T:A (self)
6312209, 3495532, 2470188, 1970238, 1532743, 3855108, 1324596, 1620394, 3329289, 871547, 7294047, 3495532, 762736, ss329346729, ss555268538, ss648844670, ss976355558, ss1068760618, ss1295428422, ss1426175153, ss1574815560, ss1602553859, ss1645547892, ss1796031922, ss1919578464, ss2020316805, ss2148355193, ss2624672155, ss2698361200, ss2768403300, ss2988775436, ss3344008092, ss3656731940, ss3728039731, ss3747581530, ss3826750419, ss3836778701, ss3851312309, ss3896677714, ss5149324740, ss5326031833, ss5627841565, ss5833541600, ss5939690178, ss5980028421 NC_000001.10:244359344:T:A NC_000001.11:244196042:T:A (self)
8444247, 11179098, 53895579, 4536028909, ss2171662958, ss3023920887, ss3689020932, ss3800584589, ss3842191782, ss4490289244, ss5246482098, ss5446848963, ss5520918312, ss5677341994, ss5801817097, ss5849375491, ss5912753220 NC_000001.11:244196042:T:A NC_000001.11:244196042:T:A (self)
ss18076386, ss19835086 NT_004836.15:9022708:T:A NC_000001.11:244196042:T:A (self)
ss39681185, ss102840043, ss161237171 NT_167186.1:37877123:T:A NC_000001.11:244196042:T:A (self)
ss2768403300 NC_000001.10:244359344:T:C NC_000001.11:244196042:T:C (self)
4536028909 NC_000001.11:244196042:T:C NC_000001.11:244196042:T:C (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 rs10927155

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