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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.

rs55848837

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:46093270 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.433220 (114669/264690, TOPMED)
A=0.42247 (6212/14704, ALFA)
A=0.3871 (2479/6404, 1000G_30x) (+ 6 more)
A=0.3888 (1947/5008, 1000G)
C=0.4477 (1311/2928, KOREAN)
A=0.002 (1/534, MGP)
C=0.289 (100/346, SGDP_PRJ)
A=0.319 (69/216, Qatari)
C=0.39 (7/18, 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 14704 C=0.56848 A=0.42247, T=0.00905, G=0.00000
European Sub 12500 C=0.49672 A=0.49264, T=0.01064, G=0.00000
African Sub 1738 C=1.0000 A=0.0000, T=0.0000, G=0.0000
African Others Sub 74 C=1.00 A=0.00, T=0.00, G=0.00
African American Sub 1664 C=1.0000 A=0.0000, T=0.0000, G=0.0000
Asian Sub 72 C=0.69 A=0.31, T=0.00, G=0.00
East Asian Sub 66 C=0.67 A=0.33, T=0.00, G=0.00
Other Asian Sub 6 C=1.0 A=0.0, T=0.0, G=0.0
Latin American 1 Sub 44 C=1.00 A=0.00, T=0.00, G=0.00
Latin American 2 Sub 88 C=1.00 A=0.00, T=0.00, G=0.00
South Asian Sub 38 C=1.00 A=0.00, T=0.00, G=0.00
Other Sub 224 C=0.857 A=0.143, T=0.000, G=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 C=0.566780 A=0.433220
Allele Frequency Aggregator Total Global 14704 C=0.56848 A=0.42247, G=0.00000, T=0.00905
Allele Frequency Aggregator European Sub 12500 C=0.49672 A=0.49264, G=0.00000, T=0.01064
Allele Frequency Aggregator African Sub 1738 C=1.0000 A=0.0000, G=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 224 C=0.857 A=0.143, G=0.000, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 88 C=1.00 A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator Asian Sub 72 C=0.69 A=0.31, G=0.00, T=0.00
Allele Frequency Aggregator Latin American 1 Sub 44 C=1.00 A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator South Asian Sub 38 C=1.00 A=0.00, G=0.00, T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.5924 A=0.3871, T=0.0205
1000Genomes_30x African Sub 1786 C=0.8415 A=0.1445, T=0.0140
1000Genomes_30x Europe Sub 1266 C=0.4336 A=0.5371, T=0.0292
1000Genomes_30x South Asian Sub 1202 C=0.6339 A=0.3536, T=0.0125
1000Genomes_30x East Asian Sub 1170 C=0.4684 A=0.5154, T=0.0162
1000Genomes_30x American Sub 980 C=0.441 A=0.523, T=0.036
1000Genomes Global Study-wide 5008 C=0.5907 T=0.0206, A=0.3888
1000Genomes African Sub 1322 C=0.8419 T=0.0129, A=0.1452
1000Genomes East Asian Sub 1008 C=0.4603 T=0.0159, A=0.5238
1000Genomes Europe Sub 1006 C=0.4384 T=0.0308, A=0.5308
1000Genomes South Asian Sub 978 C=0.640 T=0.012, A=0.348
1000Genomes American Sub 694 C=0.452 T=0.039, A=0.509
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.4477 T=0.0082, G=0.0000, A=0.5441
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.998 A=0.002
SGDP_PRJ Global Study-wide 346 C=0.289 T=0.040, A=0.671
Qatari Global Study-wide 216 C=0.681 A=0.319
Siberian Global Study-wide 18 C=0.39 A=0.61
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 10 NC_000010.11:g.46093270C>A
GRCh38.p14 chr 10 NC_000010.11:g.46093270C>G
GRCh38.p14 chr 10 NC_000010.11:g.46093270C>T
GRCh37.p13 chr 10 fix patch HG1211_PATCH NW_003871068.1:g.364385C>A
GRCh37.p13 chr 10 fix patch HG1211_PATCH NW_003871068.1:g.364385C>G
GRCh37.p13 chr 10 fix patch HG1211_PATCH NW_003871068.1:g.364385C>T
GRCh37.p13 chr 10 NC_000010.10:g.51502552G>T
GRCh37.p13 chr 10 NC_000010.10:g.51502552G>C
GRCh37.p13 chr 10 NC_000010.10:g.51502552G>A
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 C= A G T
GRCh38.p14 chr 10 NC_000010.11:g.46093270= NC_000010.11:g.46093270C>A NC_000010.11:g.46093270C>G NC_000010.11:g.46093270C>T
GRCh37.p13 chr 10 fix patch HG1211_PATCH NW_003871068.1:g.364385= NW_003871068.1:g.364385C>A NW_003871068.1:g.364385C>G NW_003871068.1:g.364385C>T
GRCh37.p13 chr 10 NC_000010.10:g.51502552= NC_000010.10:g.51502552G>T NC_000010.10:g.51502552G>C NC_000010.10:g.51502552G>A
TIMM23B transcript variant X1 XM_003118952.4:c.514+114789= XM_003118952.4:c.514+114789G>T XM_003118952.4:c.514+114789G>C XM_003118952.4:c.514+114789G>A
TIMM23B transcript variant X3 XM_005270305.1:c.370+114789= XM_005270305.1:c.370+114789G>T XM_005270305.1:c.370+114789G>C XM_005270305.1:c.370+114789G>A
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#.

64 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss77339506 Dec 06, 2007 (129)
2 BCMHGSC_JDW ss88202024 Mar 23, 2008 (130)
3 ENSEMBL ss131855234 Dec 01, 2009 (131)
4 GMI ss154988922 Dec 01, 2009 (131)
5 COMPLETE_GENOMICS ss168325516 Jul 04, 2010 (132)
6 SNP500CANCER ss184957345 Jul 04, 2010 (132)
7 1000GENOMES ss224710652 Jul 14, 2010 (132)
8 BL ss254294384 May 09, 2011 (134)
9 GMI ss280606169 May 04, 2012 (137)
10 TISHKOFF ss561941570 Apr 25, 2013 (138)
11 JMKIDD_LAB ss1076965848 Aug 21, 2014 (142)
12 1000GENOMES ss1337355368 Aug 21, 2014 (142)
13 1000GENOMES ss1337355369 Aug 21, 2014 (142)
14 DDI ss1426311967 Apr 09, 2015 (144)
15 EVA_DECODE ss1597128276 Apr 01, 2015 (144)
16 EVA_DECODE ss1597128277 Apr 01, 2015 (144)
17 EVA_UK10K_ALSPAC ss1624526632 Apr 09, 2015 (144)
18 EVA_UK10K_ALSPAC ss1624526633 Apr 09, 2015 (144)
19 EVA_UK10K_TWINSUK ss1667520665 Apr 09, 2015 (144)
20 EVA_UK10K_TWINSUK ss1667520666 Apr 09, 2015 (144)
21 EVA_MGP ss1711257067 Apr 09, 2015 (144)
22 HAMMER_LAB ss1806377670 Sep 11, 2015 (146)
23 WEILL_CORNELL_DGM ss1930822979 Feb 17, 2016 (147)
24 GENOMED ss1967120914 Sep 28, 2016 (149)
25 USC_VALOUEV ss2154407061 Oct 12, 2018 (152)
26 SYSTEMSBIOZJU ss2627536721 Oct 12, 2018 (152)
27 GRF ss2698647811 Oct 12, 2018 (152)
28 ILLUMINA ss2710709643 Oct 12, 2018 (152)
29 GNOMAD ss2888552581 Oct 12, 2018 (152)
30 SWEGEN ss3006440390 Oct 12, 2018 (152)
31 SWEGEN ss3006440391 Oct 12, 2018 (152)
32 EVA_DECODE ss3689798272 Jul 13, 2019 (153)
33 EVA_DECODE ss3689798273 Jul 13, 2019 (153)
34 ACPOP ss3737299752 Jul 13, 2019 (153)
35 ACPOP ss3737299753 Jul 13, 2019 (153)
36 EVA ss3748077657 Jul 13, 2019 (153)
37 PACBIO ss3786663375 Jul 13, 2019 (153)
38 PACBIO ss3791844513 Jul 13, 2019 (153)
39 PACBIO ss3796726456 Jul 13, 2019 (153)
40 KHV_HUMAN_GENOMES ss3813424356 Jul 13, 2019 (153)
41 KHV_HUMAN_GENOMES ss3813424357 Jul 13, 2019 (153)
42 EVA ss3832110471 Apr 26, 2020 (154)
43 EVA ss3839591180 Apr 26, 2020 (154)
44 EVA ss3845056654 Apr 26, 2020 (154)
45 SGDP_PRJ ss3874159919 Apr 26, 2020 (154)
46 KRGDB ss3922220144 Apr 26, 2020 (154)
47 KOGIC ss3967793662 Apr 26, 2020 (154)
48 KOGIC ss3967793663 Apr 26, 2020 (154)
49 GNOMAD ss4217611610 Apr 26, 2021 (155)
50 GNOMAD ss4217611611 Apr 26, 2021 (155)
51 TOPMED ss4850980332 Apr 26, 2021 (155)
52 TOMMO_GENOMICS ss5197544299 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5197544300 Apr 26, 2021 (155)
54 1000G_HIGH_COVERAGE ss5283876841 Oct 16, 2022 (156)
55 1000G_HIGH_COVERAGE ss5283876842 Oct 16, 2022 (156)
56 1000G_HIGH_COVERAGE ss5577728937 Oct 16, 2022 (156)
57 SANFORD_IMAGENETICS ss5649238176 Oct 16, 2022 (156)
58 TOMMO_GENOMICS ss5743191004 Oct 16, 2022 (156)
59 TOMMO_GENOMICS ss5743191005 Oct 16, 2022 (156)
60 YY_MCH ss5811486500 Oct 16, 2022 (156)
61 EVA ss5824364315 Oct 16, 2022 (156)
62 EVA ss5824364316 Oct 16, 2022 (156)
63 EVA ss5940507309 Oct 16, 2022 (156)
64 EVA ss5980613989 Oct 16, 2022 (156)
65 1000Genomes NC_000010.10 - 51502552 Oct 12, 2018 (152)
66 1000Genomes_30x NC_000010.11 - 46093270 Oct 16, 2022 (156)
67 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 27609313 (NC_000010.10:51502551:G:G 1865/3854, NC_000010.10:51502551:G:T 1989/3854)
Row 27609314 (NC_000010.10:51502551:G:G 3712/3854, NC_000010.10:51502551:G:A 142/3854)

- Oct 12, 2018 (152)
68 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 27609313 (NC_000010.10:51502551:G:G 1865/3854, NC_000010.10:51502551:G:T 1989/3854)
Row 27609314 (NC_000010.10:51502551:G:G 3712/3854, NC_000010.10:51502551:G:A 142/3854)

- Oct 12, 2018 (152)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 350931180 (NC_000010.11:46093269:C:A 59740/139576)
Row 350931181 (NC_000010.11:46093269:C:T 4285/139668)

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

Submission ignored due to conflicting rows:
Row 350931180 (NC_000010.11:46093269:C:A 59740/139576)
Row 350931181 (NC_000010.11:46093269:C:T 4285/139668)

- Apr 26, 2021 (155)
71 KOREAN population from KRGDB NC_000010.10 - 51502552 Apr 26, 2020 (154)
72 Korean Genome Project

Submission ignored due to conflicting rows:
Row 24171663 (NC_000010.11:46093269:C:A 997/1832)
Row 24171664 (NC_000010.11:46093269:C:T 22/1832)

- Apr 26, 2020 (154)
73 Korean Genome Project

Submission ignored due to conflicting rows:
Row 24171663 (NC_000010.11:46093269:C:A 997/1832)
Row 24171664 (NC_000010.11:46093269:C:T 22/1832)

- Apr 26, 2020 (154)
74 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 51502552 Apr 26, 2020 (154)
75 Northern Sweden

Submission ignored due to conflicting rows:
Row 10584617 (NC_000010.10:51502551:G:G 272/600, NC_000010.10:51502551:G:T 328/600)
Row 10584618 (NC_000010.10:51502551:G:G 580/600, NC_000010.10:51502551:G:A 20/600)

- Jul 13, 2019 (153)
76 Northern Sweden

Submission ignored due to conflicting rows:
Row 10584617 (NC_000010.10:51502551:G:G 272/600, NC_000010.10:51502551:G:T 328/600)
Row 10584618 (NC_000010.10:51502551:G:G 580/600, NC_000010.10:51502551:G:A 20/600)

- Jul 13, 2019 (153)
77 Qatari NC_000010.10 - 51502552 Apr 26, 2020 (154)
78 SGDP_PRJ NC_000010.10 - 51502552 Apr 26, 2020 (154)
79 Siberian NC_000010.10 - 51502552 Apr 26, 2020 (154)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 55513606 (NC_000010.10:51502551:G:T 8638/16756)
Row 55513607 (NC_000010.10:51502551:G:A 178/16756)

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 55513606 (NC_000010.10:51502551:G:T 8638/16756)
Row 55513607 (NC_000010.10:51502551:G:A 178/16756)

- Apr 26, 2021 (155)
82 14KJPN

Submission ignored due to conflicting rows:
Row 77028108 (NC_000010.11:46093269:C:A 10746/21292)
Row 77028109 (NC_000010.11:46093269:C:T 213/21292)

- Oct 16, 2022 (156)
83 14KJPN

Submission ignored due to conflicting rows:
Row 77028108 (NC_000010.11:46093269:C:A 10746/21292)
Row 77028109 (NC_000010.11:46093269:C:T 213/21292)

- Oct 16, 2022 (156)
84 TopMed NC_000010.11 - 46093270 Apr 26, 2021 (155)
85 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 27609313 (NC_000010.10:51502551:G:G 1828/3708, NC_000010.10:51502551:G:T 1880/3708)
Row 27609314 (NC_000010.10:51502551:G:G 3574/3708, NC_000010.10:51502551:G:A 134/3708)

- Oct 12, 2018 (152)
86 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 27609313 (NC_000010.10:51502551:G:G 1828/3708, NC_000010.10:51502551:G:T 1880/3708)
Row 27609314 (NC_000010.10:51502551:G:G 3574/3708, NC_000010.10:51502551:G:A 134/3708)

- Oct 12, 2018 (152)
87 ALFA NC_000010.11 - 46093270 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)
rs61850106 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77339506 NC_000010.8:51172557:G:T NC_000010.11:46093269:C:A (self)
ss88202024, ss168325516, ss254294384, ss280606169, ss1597128277 NC_000010.9:51172557:G:T NC_000010.11:46093269:C:A (self)
49739382, 29397538, 372827, 12864909, 26176899, 6923415, ss224710652, ss561941570, ss1076965848, ss1337355369, ss1426311967, ss1624526632, ss1667520665, ss1711257067, ss1806377670, ss1930822979, ss1967120914, ss2154407061, ss2627536721, ss2698647811, ss2710709643, ss2888552581, ss3006440390, ss3737299752, ss3748077657, ss3786663375, ss3791844513, ss3796726456, ss3832110471, ss3874159919, ss3922220144, ss5197544299, ss5649238176, ss5824364315, ss5940507309, ss5980613989 NC_000010.10:51502551:G:T NC_000010.11:46093269:C:A (self)
65254872, 66525987, 15431393838, ss3689798272, ss3813424357, ss3967793662, ss4217611610, ss4850980332, ss5283876841, ss5577728937, ss5743191004, ss5811486500 NC_000010.11:46093269:C:A NC_000010.11:46093269:C:A (self)
ss131855234, ss154988922, ss184957345 NT_030059.13:2307015:G:T NC_000010.11:46093269:C:A (self)
29397538, ss3922220144 NC_000010.10:51502551:G:C NC_000010.11:46093269:C:G (self)
15431393838 NC_000010.11:46093269:C:G NC_000010.11:46093269:C:G (self)
ss1597128276 NC_000010.9:51172557:G:A NC_000010.11:46093269:C:T (self)
49739382, 29397538, 26176899, ss561941570, ss1337355368, ss1624526633, ss1667520666, ss2888552581, ss3006440391, ss3737299753, ss3839591180, ss3874159919, ss3922220144, ss5197544300, ss5649238176, ss5824364316 NC_000010.10:51502551:G:A NC_000010.11:46093269:C:T (self)
65254872, 15431393838, ss3689798273, ss3813424356, ss3845056654, ss3967793663, ss4217611611, ss5283876842, ss5577728937, ss5743191005, ss5811486500 NC_000010.11:46093269:C:T NC_000010.11:46093269:C: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 rs55848837

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