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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.

rs2092326

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:25418570 (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
T=0.410480 (108650/264690, TOPMED)
T=0.403760 (56570/140108, GnomAD)
C=0.00000 (0/78668, PAGE_STUDY) (+ 15 more)
C=0.32440 (9167/28258, 14KJPN)
T=0.44532 (8706/19550, ALFA)
C=0.32715 (5483/16760, 8.3KJPN)
T=0.4899 (3137/6404, 1000G_30x)
C=0.4998 (2503/5008, 1000G)
T=0.4523 (1743/3854, ALSPAC)
T=0.4420 (1639/3708, TWINSUK)
C=0.3389 (993/2930, KOREAN)
T=0.439 (438/998, GoNL)
T=0.400 (240/600, NorthernSweden)
T=0.327 (123/376, SGDP_PRJ)
T=0.394 (85/216, Qatari)
C=0.168 (36/214, Vietnamese)
T=0.40 (16/40, GENOME_DK)
T=0.32 (12/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RHCE : 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 19550 T=0.44532 C=0.55468
European Sub 14364 T=0.45677 C=0.54323
African Sub 3380 T=0.3441 C=0.6559
African Others Sub 114 T=0.140 C=0.860
African American Sub 3266 T=0.3512 C=0.6488
Asian Sub 146 T=0.836 C=0.164
East Asian Sub 120 T=0.825 C=0.175
Other Asian Sub 26 T=0.88 C=0.12
Latin American 1 Sub 146 T=0.466 C=0.534
Latin American 2 Sub 610 T=0.534 C=0.466
South Asian Sub 104 T=0.606 C=0.394
Other Sub 800 T=0.504 C=0.496


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=0.410480 C=0.589520
gnomAD - Genomes Global Study-wide 140108 T=0.403760 C=0.596240
gnomAD - Genomes European Sub 75888 T=0.45854 C=0.54146
gnomAD - Genomes African Sub 41976 T=0.24705 C=0.75295
gnomAD - Genomes American Sub 13648 T=0.47384 C=0.52616
gnomAD - Genomes Ashkenazi Jewish Sub 3314 T=0.5335 C=0.4665
gnomAD - Genomes East Asian Sub 3132 T=0.7171 C=0.2829
gnomAD - Genomes Other Sub 2150 T=0.4284 C=0.5716
The PAGE Study Global Study-wide 78668 T=1.00000 C=0.00000
The PAGE Study AfricanAmerican Sub 32504 T=1.00000 C=0.00000
The PAGE Study Mexican Sub 10808 T=1.00000 C=0.00000
The PAGE Study Asian Sub 8312 T=1.0000 C=0.0000
The PAGE Study PuertoRican Sub 7914 T=1.0000 C=0.0000
The PAGE Study NativeHawaiian Sub 4530 T=1.0000 C=0.0000
The PAGE Study Cuban Sub 4228 T=1.0000 C=0.0000
The PAGE Study Dominican Sub 3828 T=1.0000 C=0.0000
The PAGE Study CentralAmerican Sub 2450 T=1.0000 C=0.0000
The PAGE Study SouthAmerican Sub 1980 T=1.0000 C=0.0000
The PAGE Study NativeAmerican Sub 1260 T=1.0000 C=0.0000
The PAGE Study SouthAsian Sub 854 T=1.000 C=0.000
14KJPN JAPANESE Study-wide 28258 T=0.67560 C=0.32440
Allele Frequency Aggregator Total Global 19550 T=0.44532 C=0.55468
Allele Frequency Aggregator European Sub 14364 T=0.45677 C=0.54323
Allele Frequency Aggregator African Sub 3380 T=0.3441 C=0.6559
Allele Frequency Aggregator Other Sub 800 T=0.504 C=0.496
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.534 C=0.466
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.466 C=0.534
Allele Frequency Aggregator Asian Sub 146 T=0.836 C=0.164
Allele Frequency Aggregator South Asian Sub 104 T=0.606 C=0.394
8.3KJPN JAPANESE Study-wide 16760 T=0.67285 C=0.32715
1000Genomes_30x Global Study-wide 6404 T=0.4899 C=0.5101
1000Genomes_30x African Sub 1786 T=0.1837 C=0.8163
1000Genomes_30x Europe Sub 1266 T=0.4510 C=0.5490
1000Genomes_30x South Asian Sub 1202 T=0.6789 C=0.3211
1000Genomes_30x East Asian Sub 1170 T=0.7803 C=0.2197
1000Genomes_30x American Sub 980 T=0.519 C=0.481
1000Genomes Global Study-wide 5008 T=0.5002 C=0.4998
1000Genomes African Sub 1322 T=0.1906 C=0.8094
1000Genomes East Asian Sub 1008 T=0.7738 C=0.2262
1000Genomes Europe Sub 1006 T=0.4513 C=0.5487
1000Genomes South Asian Sub 978 T=0.679 C=0.321
1000Genomes American Sub 694 T=0.512 C=0.488
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4523 C=0.5477
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4420 C=0.5580
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6611 A=0.0000, C=0.3389
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.439 C=0.561
Northern Sweden ACPOP Study-wide 600 T=0.400 C=0.600
SGDP_PRJ Global Study-wide 376 T=0.327 C=0.673
Qatari Global Study-wide 216 T=0.394 C=0.606
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.832 C=0.168
The Danish reference pan genome Danish Study-wide 40 T=0.40 C=0.60
Siberian Global Study-wide 38 T=0.32 C=0.68
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.25418570T>A
GRCh38.p14 chr 1 NC_000001.11:g.25418570T>C
GRCh37.p13 chr 1 NC_000001.10:g.25745061T>A
GRCh37.p13 chr 1 NC_000001.10:g.25745061T>C
RHCE RefSeqGene (LRG_797) NG_009208.3:g.16623A>T
RHCE RefSeqGene (LRG_797) NG_009208.3:g.16623A>G
Gene: RHCE, Rh blood group CcEe antigens (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RHCE transcript variant 5 NM_001330430.4:c.148+2069…

NM_001330430.4:c.148+2069A>T

N/A Intron Variant
RHCE transcript variant 1 NM_020485.8:c.148+2069A>T N/A Intron Variant
RHCE transcript variant 3 NM_138616.5:c.148+2069A>T N/A Intron Variant
RHCE transcript variant 4 NM_138617.5:c.148+2069A>T N/A Intron Variant
RHCE transcript variant 2 NM_138618.6:c.148+2069A>T N/A Intron Variant
RHCE transcript variant X5 XM_005245957.5:c.148+2069…

XM_005245957.5:c.148+2069A>T

N/A Intron Variant
RHCE transcript variant X4 XM_006710810.4:c.148+2069…

XM_006710810.4:c.148+2069A>T

N/A Intron Variant
RHCE transcript variant X1 XM_011541888.4:c.28+1185A…

XM_011541888.4:c.28+1185A>T

N/A Intron Variant
RHCE transcript variant X2 XM_011541889.4:c.254-9701…

XM_011541889.4:c.254-9701A>T

N/A Intron Variant
RHCE transcript variant X6 XM_017002014.3:c.148+2069…

XM_017002014.3:c.148+2069A>T

N/A Intron Variant
RHCE transcript variant X3 XM_047427028.1:c.-20-9701…

XM_047427028.1:c.-20-9701A>T

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= A C
GRCh38.p14 chr 1 NC_000001.11:g.25418570= NC_000001.11:g.25418570T>A NC_000001.11:g.25418570T>C
GRCh37.p13 chr 1 NC_000001.10:g.25745061= NC_000001.10:g.25745061T>A NC_000001.10:g.25745061T>C
RHCE RefSeqGene (LRG_797) NG_009208.3:g.16623= NG_009208.3:g.16623A>T NG_009208.3:g.16623A>G
RHCE transcript variant 5 NM_001330430.4:c.148+2069= NM_001330430.4:c.148+2069A>T NM_001330430.4:c.148+2069A>G
RHCE transcript variant 1 NM_020485.4:c.148+2069= NM_020485.4:c.148+2069A>T NM_020485.4:c.148+2069A>G
RHCE transcript variant 1 NM_020485.8:c.148+2069= NM_020485.8:c.148+2069A>T NM_020485.8:c.148+2069A>G
RHCE transcript variant 3 NM_138616.3:c.148+2069= NM_138616.3:c.148+2069A>T NM_138616.3:c.148+2069A>G
RHCE transcript variant 3 NM_138616.5:c.148+2069= NM_138616.5:c.148+2069A>T NM_138616.5:c.148+2069A>G
RHCE transcript variant 4 NM_138617.3:c.148+2069= NM_138617.3:c.148+2069A>T NM_138617.3:c.148+2069A>G
RHCE transcript variant 4 NM_138617.5:c.148+2069= NM_138617.5:c.148+2069A>T NM_138617.5:c.148+2069A>G
RHCE transcript variant 2 NM_138618.3:c.148+2069= NM_138618.3:c.148+2069A>T NM_138618.3:c.148+2069A>G
RHCE transcript variant 2 NM_138618.6:c.148+2069= NM_138618.6:c.148+2069A>T NM_138618.6:c.148+2069A>G
RHCE transcript variant X1 XM_005245957.1:c.148+2069= XM_005245957.1:c.148+2069A>T XM_005245957.1:c.148+2069A>G
RHCE transcript variant X5 XM_005245957.5:c.148+2069= XM_005245957.5:c.148+2069A>T XM_005245957.5:c.148+2069A>G
RHCE transcript variant X2 XM_005245958.1:c.148+2069= XM_005245958.1:c.148+2069A>T XM_005245958.1:c.148+2069A>G
RHCE transcript variant X4 XM_006710810.4:c.148+2069= XM_006710810.4:c.148+2069A>T XM_006710810.4:c.148+2069A>G
RHCE transcript variant X1 XM_011541888.4:c.28+1185= XM_011541888.4:c.28+1185A>T XM_011541888.4:c.28+1185A>G
RHCE transcript variant X2 XM_011541889.4:c.254-9701= XM_011541889.4:c.254-9701A>T XM_011541889.4:c.254-9701A>G
RHCE transcript variant X6 XM_017002014.3:c.148+2069= XM_017002014.3:c.148+2069A>T XM_017002014.3:c.148+2069A>G
RHCE transcript variant X3 XM_047427028.1:c.-20-9701= XM_047427028.1:c.-20-9701A>T XM_047427028.1:c.-20-9701A>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#.

67 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3009513 Jun 15, 2001 (96)
2 SC_SNP ss13044801 Dec 05, 2003 (119)
3 ABI ss41164498 Mar 14, 2006 (126)
4 HGSV ss78025092 Dec 07, 2007 (129)
5 HUMANGENOME_JCVI ss99195242 Feb 05, 2009 (130)
6 ILLUMINA-UK ss118573452 Dec 01, 2009 (131)
7 ENSEMBL ss138990320 Dec 01, 2009 (131)
8 COMPLETE_GENOMICS ss163200043 Jul 04, 2010 (132)
9 COMPLETE_GENOMICS ss163999514 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss166263343 Jul 04, 2010 (132)
11 BUSHMAN ss198191584 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss205317339 Jul 04, 2010 (132)
13 1000GENOMES ss238173592 Jul 15, 2010 (132)
14 GMI ss275758317 May 04, 2012 (137)
15 GMI ss284021626 Apr 25, 2013 (138)
16 PJP ss290793118 May 09, 2011 (134)
17 TISHKOFF ss553907748 Apr 25, 2013 (138)
18 SSMP ss647648584 Apr 25, 2013 (138)
19 EVA-GONL ss974960978 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1067744612 Aug 21, 2014 (142)
21 1000GENOMES ss1290092297 Aug 21, 2014 (142)
22 DDI ss1425750676 Apr 01, 2015 (144)
23 EVA_GENOME_DK ss1573949197 Apr 01, 2015 (144)
24 EVA_DECODE ss1584319664 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1599755411 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1642749444 Apr 01, 2015 (144)
27 HAMMER_LAB ss1794082655 Sep 08, 2015 (146)
28 WEILL_CORNELL_DGM ss1918172977 Feb 12, 2016 (147)
29 ILLUMINA ss1958254430 Feb 12, 2016 (147)
30 GENOMED ss1966707929 Jul 19, 2016 (147)
31 JJLAB ss2019598312 Sep 14, 2016 (149)
32 USC_VALOUEV ss2147604408 Dec 20, 2016 (150)
33 SYSTEMSBIOZJU ss2624316176 Nov 08, 2017 (151)
34 GRF ss2697510195 Nov 08, 2017 (151)
35 GNOMAD ss2752832183 Nov 08, 2017 (151)
36 SWEGEN ss2986490112 Nov 08, 2017 (151)
37 ILLUMINA ss3021068102 Nov 08, 2017 (151)
38 BIOINF_KMB_FNS_UNIBA ss3023564887 Nov 08, 2017 (151)
39 CSHL ss3343373677 Nov 08, 2017 (151)
40 URBANLAB ss3646626375 Oct 11, 2018 (152)
41 ILLUMINA ss3651393517 Oct 11, 2018 (152)
42 EVA_DECODE ss3686376320 Jul 12, 2019 (153)
43 ILLUMINA ss3725007275 Jul 12, 2019 (153)
44 ACPOP ss3726881084 Jul 12, 2019 (153)
45 EVA ss3745957920 Jul 12, 2019 (153)
46 PAGE_CC ss3770794339 Jul 12, 2019 (153)
47 KHV_HUMAN_GENOMES ss3798978423 Jul 12, 2019 (153)
48 EVA ss3826078734 Apr 25, 2020 (154)
49 EVA ss3836427498 Apr 25, 2020 (154)
50 EVA ss3841832294 Apr 25, 2020 (154)
51 SGDP_PRJ ss3848440334 Apr 25, 2020 (154)
52 KRGDB ss3893360213 Apr 25, 2020 (154)
53 TOPMED ss4442625569 Apr 27, 2021 (155)
54 TOMMO_GENOMICS ss5142999840 Apr 27, 2021 (155)
55 1000G_HIGH_COVERAGE ss5241560752 Oct 13, 2022 (156)
56 HUGCELL_USP ss5442704641 Oct 13, 2022 (156)
57 EVA ss5505793014 Oct 13, 2022 (156)
58 1000G_HIGH_COVERAGE ss5513493556 Oct 13, 2022 (156)
59 SANFORD_IMAGENETICS ss5625140938 Oct 13, 2022 (156)
60 TOMMO_GENOMICS ss5667462931 Oct 13, 2022 (156)
61 YY_MCH ss5800425106 Oct 13, 2022 (156)
62 EVA ss5831689286 Oct 13, 2022 (156)
63 EVA ss5848828502 Oct 13, 2022 (156)
64 EVA ss5907453716 Oct 13, 2022 (156)
65 EVA ss5936957168 Oct 13, 2022 (156)
66 EVA ss5979267213 Oct 13, 2022 (156)
67 EVA ss5979944950 Oct 13, 2022 (156)
68 1000Genomes NC_000001.10 - 25745061 Oct 11, 2018 (152)
69 1000Genomes_30x NC_000001.11 - 25418570 Oct 13, 2022 (156)
70 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 25745061 Oct 11, 2018 (152)
71 The Danish reference pan genome NC_000001.10 - 25745061 Apr 25, 2020 (154)
72 gnomAD - Genomes NC_000001.11 - 25418570 Apr 27, 2021 (155)
73 Genome of the Netherlands Release 5 NC_000001.10 - 25745061 Apr 25, 2020 (154)
74 KOREAN population from KRGDB NC_000001.10 - 25745061 Apr 25, 2020 (154)
75 Northern Sweden NC_000001.10 - 25745061 Jul 12, 2019 (153)
76 The PAGE Study NC_000001.11 - 25418570 Jul 12, 2019 (153)
77 Qatari NC_000001.10 - 25745061 Apr 25, 2020 (154)
78 SGDP_PRJ NC_000001.10 - 25745061 Apr 25, 2020 (154)
79 Siberian NC_000001.10 - 25745061 Apr 25, 2020 (154)
80 8.3KJPN NC_000001.10 - 25745061 Apr 27, 2021 (155)
81 14KJPN NC_000001.11 - 25418570 Oct 13, 2022 (156)
82 TopMed NC_000001.11 - 25418570 Apr 27, 2021 (155)
83 UK 10K study - Twins NC_000001.10 - 25745061 Oct 11, 2018 (152)
84 A Vietnamese Genetic Variation Database NC_000001.10 - 25745061 Jul 12, 2019 (153)
85 ALFA NC_000001.11 - 25418570 Apr 27, 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
537607, ss3893360213 NC_000001.10:25745060:T:A NC_000001.11:25418569:T:A (self)
ss78025092 NC_000001.8:25490376:T:C NC_000001.11:25418569:T:C (self)
ss118573452, ss163200043, ss163999514, ss166263343, ss198191584, ss205317339, ss275758317, ss284021626, ss290793118, ss1584319664 NC_000001.9:25617647:T:C NC_000001.11:25418569:T:C (self)
782371, 415539, 1431074, 180315, 537607, 165949, 214907, 457314, 120762, 969147, 415539, 87521, ss238173592, ss553907748, ss647648584, ss974960978, ss1067744612, ss1290092297, ss1425750676, ss1573949197, ss1599755411, ss1642749444, ss1794082655, ss1918172977, ss1958254430, ss1966707929, ss2019598312, ss2147604408, ss2624316176, ss2697510195, ss2752832183, ss2986490112, ss3021068102, ss3343373677, ss3651393517, ss3726881084, ss3745957920, ss3826078734, ss3836427498, ss3848440334, ss3893360213, ss5142999840, ss5505793014, ss5625140938, ss5831689286, ss5936957168, ss5979267213, ss5979944950 NC_000001.10:25745060:T:C NC_000001.11:25418569:T:C (self)
1019491, 5469414, 15808, 1300035, 6231904, 3913744471, ss3023564887, ss3646626375, ss3686376320, ss3725007275, ss3770794339, ss3798978423, ss3841832294, ss4442625569, ss5241560752, ss5442704641, ss5513493556, ss5667462931, ss5800425106, ss5848828502, ss5907453716 NC_000001.11:25418569:T:C NC_000001.11:25418569:T:C (self)
ss3009513, ss41164498, ss99195242, ss138990320 NT_004610.19:12425148:T:C NC_000001.11:25418569:T:C (self)
ss13044801 NT_077384.1:49254:T:C NC_000001.11:25418569: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 rs2092326

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