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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.

rs28685153

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:25304945 (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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.363436 (43472/119614, GnomAD)
A=0.27389 (7699/28110, 14KJPN)
A=0.27489 (4583/16672, 8.3KJPN) (+ 9 more)
A=0.30110 (3683/12232, ALFA)
A=0.3342 (2140/6404, 1000G_30x)
A=0.3145 (1575/5008, 1000G)
A=0.2832 (828/2924, KOREAN)
A=0.2926 (536/1832, Korea1K)
A=0.237 (237/998, GoNL)
A=0.171 (74/434, SGDP_PRJ)
A=0.386 (78/202, Qatari)
A=0.1 (1/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RSRP1 : Intron Variant
RHD : 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 12232 A=0.30110 T=0.69890
European Sub 7752 A=0.2127 T=0.7873
African Sub 2864 A=0.5374 T=0.4626
African Others Sub 108 A=0.611 T=0.389
African American Sub 2756 A=0.5345 T=0.4655
Asian Sub 108 A=0.176 T=0.824
East Asian Sub 84 A=0.21 T=0.79
Other Asian Sub 24 A=0.04 T=0.96
Latin American 1 Sub 146 A=0.315 T=0.685
Latin American 2 Sub 610 A=0.338 T=0.662
South Asian Sub 94 A=0.18 T=0.82
Other Sub 658 A=0.315 T=0.685


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
gnomAD - Genomes Global Study-wide 119614 A=0.363436 T=0.636564
gnomAD - Genomes European Sub 61494 A=0.25435 T=0.74565
gnomAD - Genomes African Sub 38266 A=0.56437 T=0.43563
gnomAD - Genomes American Sub 11984 A=0.35514 T=0.64486
gnomAD - Genomes East Asian Sub 3088 A=0.2406 T=0.7594
gnomAD - Genomes Ashkenazi Jewish Sub 2952 A=0.2029 T=0.7971
gnomAD - Genomes Other Sub 1830 A=0.3481 T=0.6519
14KJPN JAPANESE Study-wide 28110 A=0.27389 T=0.72611
8.3KJPN JAPANESE Study-wide 16672 A=0.27489 T=0.72511
Allele Frequency Aggregator Total Global 12232 A=0.30110 T=0.69890
Allele Frequency Aggregator European Sub 7752 A=0.2127 T=0.7873
Allele Frequency Aggregator African Sub 2864 A=0.5374 T=0.4626
Allele Frequency Aggregator Other Sub 658 A=0.315 T=0.685
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.338 T=0.662
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.315 T=0.685
Allele Frequency Aggregator Asian Sub 108 A=0.176 T=0.824
Allele Frequency Aggregator South Asian Sub 94 A=0.18 T=0.82
1000Genomes_30x Global Study-wide 6404 A=0.3342 T=0.6658
1000Genomes_30x African Sub 1786 A=0.6260 T=0.3740
1000Genomes_30x Europe Sub 1266 A=0.2709 T=0.7291
1000Genomes_30x South Asian Sub 1202 A=0.1198 T=0.8802
1000Genomes_30x East Asian Sub 1170 A=0.1923 T=0.8077
1000Genomes_30x American Sub 980 A=0.316 T=0.684
1000Genomes Global Study-wide 5008 A=0.3145 T=0.6855
1000Genomes African Sub 1322 A=0.6142 T=0.3858
1000Genomes East Asian Sub 1008 A=0.1984 T=0.8016
1000Genomes Europe Sub 1006 A=0.2356 T=0.7644
1000Genomes South Asian Sub 978 A=0.116 T=0.884
1000Genomes American Sub 694 A=0.307 T=0.693
KOREAN population from KRGDB KOREAN Study-wide 2924 A=0.2832 C=0.0000, G=0.0000, T=0.7168
Korean Genome Project KOREAN Study-wide 1832 A=0.2926 T=0.7074
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.237 T=0.763
SGDP_PRJ Global Study-wide 434 A=0.171 T=0.829
Qatari Global Study-wide 202 A=0.386 T=0.614
Siberian Global Study-wide 10 A=0.1 T=0.9
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.25304945A>C
GRCh38.p14 chr 1 NC_000001.11:g.25304945A>G
GRCh38.p14 chr 1 NC_000001.11:g.25304945A>T
GRCh37.p13 chr 1 NC_000001.10:g.25631436A>C
GRCh37.p13 chr 1 NC_000001.10:g.25631436A>G
GRCh37.p13 chr 1 NC_000001.10:g.25631436A>T
RHD RefSeqGene (LRG_796) NG_007494.1:g.37456A>C
RHD RefSeqGene (LRG_796) NG_007494.1:g.37456A>G
RHD RefSeqGene (LRG_796) NG_007494.1:g.37456A>T
Gene: RHD, Rh blood group D antigen (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RHD transcript variant 2 NM_001127691.3:c.939+1486…

NM_001127691.3:c.939+1486A>C

N/A Intron Variant
RHD transcript variant 3 NM_001282867.1:c.441+1486…

NM_001282867.1:c.441+1486A>C

N/A Intron Variant
RHD transcript variant 4 NM_001282868.1:c.939+1486…

NM_001282868.1:c.939+1486A>C

N/A Intron Variant
RHD transcript variant 5 NM_001282869.2:c.939+1486…

NM_001282869.2:c.939+1486A>C

N/A Intron Variant
RHD transcript variant 6 NM_001282870.1:c.939+1486…

NM_001282870.1:c.939+1486A>C

N/A Intron Variant
RHD transcript variant 7 NM_001282871.2:c.939+1486…

NM_001282871.2:c.939+1486A>C

N/A Intron Variant
RHD transcript variant 8 NM_001282872.1:c.939+1486…

NM_001282872.1:c.939+1486A>C

N/A Intron Variant
RHD transcript variant 1 NM_016124.6:c.939+1486A>C N/A Intron Variant
RHD transcript variant X1 XM_017002015.2:c.939+1486…

XM_017002015.2:c.939+1486A>C

N/A Intron Variant
Gene: RSRP1, arginine and serine rich protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RSRP1 transcript variant 14 NM_001321772.2:c.-67+3209…

NM_001321772.2:c.-67+32095T>G

N/A Intron Variant
RSRP1 transcript variant 2 NM_020317.5:c. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 15 NR_135787.2:n. N/A Intron Variant
RSRP1 transcript variant 16 NR_135788.2:n. N/A Intron Variant
RSRP1 transcript variant 17 NR_135789.2:n. N/A Intron Variant
RSRP1 transcript variant 18 NR_135790.1:n. N/A Intron Variant
RSRP1 transcript variant 19 NR_135791.1:n. N/A Intron Variant
RSRP1 transcript variant 20 NR_135792.1:n. N/A Intron Variant
RSRP1 transcript variant 21 NR_135793.1:n. N/A Intron Variant
RSRP1 transcript variant 3 NR_135143.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 4 NR_135144.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 5 NR_135777.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 6 NR_135778.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 7 NR_135780.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 8 NR_135781.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 9 NR_135782.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 10 NR_135783.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 11 NR_135784.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 12 NR_135785.2:n. N/A Genic Upstream Transcript Variant
RSRP1 transcript variant 13 NR_135786.2: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= C G T
GRCh38.p14 chr 1 NC_000001.11:g.25304945= NC_000001.11:g.25304945A>C NC_000001.11:g.25304945A>G NC_000001.11:g.25304945A>T
GRCh37.p13 chr 1 NC_000001.10:g.25631436= NC_000001.10:g.25631436A>C NC_000001.10:g.25631436A>G NC_000001.10:g.25631436A>T
RHD RefSeqGene (LRG_796) NG_007494.1:g.37456= NG_007494.1:g.37456A>C NG_007494.1:g.37456A>G NG_007494.1:g.37456A>T
RHD transcript variant 2 NM_001127691.1:c.939+1486= NM_001127691.1:c.939+1486A>C NM_001127691.1:c.939+1486A>G NM_001127691.1:c.939+1486A>T
RHD transcript variant 2 NM_001127691.3:c.939+1486= NM_001127691.3:c.939+1486A>C NM_001127691.3:c.939+1486A>G NM_001127691.3:c.939+1486A>T
RHD transcript variant 3 NM_001282867.1:c.441+1486= NM_001282867.1:c.441+1486A>C NM_001282867.1:c.441+1486A>G NM_001282867.1:c.441+1486A>T
RHD transcript variant 4 NM_001282868.1:c.939+1486= NM_001282868.1:c.939+1486A>C NM_001282868.1:c.939+1486A>G NM_001282868.1:c.939+1486A>T
RHD transcript variant 5 NM_001282869.2:c.939+1486= NM_001282869.2:c.939+1486A>C NM_001282869.2:c.939+1486A>G NM_001282869.2:c.939+1486A>T
RHD transcript variant 6 NM_001282870.1:c.939+1486= NM_001282870.1:c.939+1486A>C NM_001282870.1:c.939+1486A>G NM_001282870.1:c.939+1486A>T
RHD transcript variant 7 NM_001282871.2:c.939+1486= NM_001282871.2:c.939+1486A>C NM_001282871.2:c.939+1486A>G NM_001282871.2:c.939+1486A>T
RHD transcript variant 8 NM_001282872.1:c.939+1486= NM_001282872.1:c.939+1486A>C NM_001282872.1:c.939+1486A>G NM_001282872.1:c.939+1486A>T
RSRP1 transcript variant 14 NM_001321772.2:c.-67+32095= NM_001321772.2:c.-67+32095T>G NM_001321772.2:c.-67+32095T>C NM_001321772.2:c.-67+32095T>A
RHD transcript variant 1 NM_016124.3:c.939+1486= NM_016124.3:c.939+1486A>C NM_016124.3:c.939+1486A>G NM_016124.3:c.939+1486A>T
RHD transcript variant 1 NM_016124.6:c.939+1486= NM_016124.6:c.939+1486A>C NM_016124.6:c.939+1486A>G NM_016124.6:c.939+1486A>T
RHD transcript variant X1 XM_005245959.1:c.939+1486= XM_005245959.1:c.939+1486A>C XM_005245959.1:c.939+1486A>G XM_005245959.1:c.939+1486A>T
RHD transcript variant X2 XM_005245960.1:c.939+1486= XM_005245960.1:c.939+1486A>C XM_005245960.1:c.939+1486A>G XM_005245960.1:c.939+1486A>T
RHD transcript variant X3 XM_005245961.1:c.939+1486= XM_005245961.1:c.939+1486A>C XM_005245961.1:c.939+1486A>G XM_005245961.1:c.939+1486A>T
RHD transcript variant X4 XM_005245962.1:c.939+1486= XM_005245962.1:c.939+1486A>C XM_005245962.1:c.939+1486A>G XM_005245962.1:c.939+1486A>T
RHD transcript variant X5 XM_005245963.1:c.939+1486= XM_005245963.1:c.939+1486A>C XM_005245963.1:c.939+1486A>G XM_005245963.1:c.939+1486A>T
RHD transcript variant X6 XM_005245964.1:c.487-1651= XM_005245964.1:c.487-1651A>C XM_005245964.1:c.487-1651A>G XM_005245964.1:c.487-1651A>T
RHD transcript variant X1 XM_017002015.2:c.939+1486= XM_017002015.2:c.939+1486A>C XM_017002015.2:c.939+1486A>G XM_017002015.2:c.939+1486A>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#.

50 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss35468599 May 24, 2005 (125)
2 HUMANGENOME_JCVI ss99195175 Feb 04, 2009 (130)
3 BGI ss105133899 Feb 23, 2009 (131)
4 ENSEMBL ss139757875 Dec 01, 2009 (131)
5 GMI ss154789597 Dec 01, 2009 (131)
6 COMPLETE_GENOMICS ss166262858 Jul 04, 2010 (132)
7 1000GENOMES ss218289860 Jul 14, 2010 (132)
8 1000GENOMES ss230467020 Jul 14, 2010 (132)
9 1000GENOMES ss238173537 Jul 15, 2010 (132)
10 BL ss252992784 May 09, 2011 (134)
11 GMI ss275758110 May 04, 2012 (137)
12 PJP ss290793030 May 09, 2011 (134)
13 ILLUMINA ss410773620 Sep 17, 2011 (135)
14 TISHKOFF ss553907233 Apr 25, 2013 (138)
15 SSMP ss647648255 Apr 25, 2013 (138)
16 EVA-GONL ss974960350 Aug 21, 2014 (142)
17 JMKIDD_LAB ss1067744299 Aug 21, 2014 (142)
18 1000GENOMES ss1290089520 Aug 21, 2014 (142)
19 DDI ss1425750462 Apr 01, 2015 (144)
20 WEILL_CORNELL_DGM ss1918172190 Feb 12, 2016 (147)
21 GENOMED ss1966707864 Jul 19, 2016 (147)
22 JJLAB ss2019598107 Sep 14, 2016 (149)
23 USC_VALOUEV ss2147604193 Dec 20, 2016 (150)
24 SYSTEMSBIOZJU ss2624316027 Nov 08, 2017 (151)
25 GRF ss2697509818 Nov 08, 2017 (151)
26 GNOMAD ss2752823274 Nov 08, 2017 (151)
27 SWEGEN ss2986488903 Nov 08, 2017 (151)
28 URBANLAB ss3646626238 Oct 11, 2018 (152)
29 EVA_DECODE ss3686375213 Jul 12, 2019 (153)
30 EVA ss3745957191 Jul 12, 2019 (153)
31 PACBIO ss3783357622 Jul 12, 2019 (153)
32 PACBIO ss3789026520 Jul 12, 2019 (153)
33 PACBIO ss3793899025 Jul 12, 2019 (153)
34 KHV_HUMAN_GENOMES ss3798977500 Jul 12, 2019 (153)
35 EVA ss3826078507 Apr 25, 2020 (154)
36 EVA ss3836427363 Apr 25, 2020 (154)
37 EVA ss3841832162 Apr 25, 2020 (154)
38 SGDP_PRJ ss3848438411 Apr 25, 2020 (154)
39 KRGDB ss3893358256 Apr 25, 2020 (154)
40 KOGIC ss3944066815 Apr 25, 2020 (154)
41 TOMMO_GENOMICS ss5142995996 Apr 25, 2021 (155)
42 EVA ss5317423975 Oct 13, 2022 (156)
43 1000G_HIGH_COVERAGE ss5513489544 Oct 13, 2022 (156)
44 SANFORD_IMAGENETICS ss5625139276 Oct 13, 2022 (156)
45 TOMMO_GENOMICS ss5667457973 Oct 13, 2022 (156)
46 YY_MCH ss5800424531 Oct 13, 2022 (156)
47 EVA ss5831688428 Oct 13, 2022 (156)
48 EVA ss5848828385 Oct 13, 2022 (156)
49 EVA ss5907451703 Oct 13, 2022 (156)
50 EVA ss5936955920 Oct 13, 2022 (156)
51 1000Genomes NC_000001.10 - 25631436 Oct 11, 2018 (152)
52 1000Genomes_30x NC_000001.11 - 25304945 Oct 13, 2022 (156)
53 gnomAD - Genomes NC_000001.11 - 25304945 Apr 25, 2021 (155)
54 Genome of the Netherlands Release 5 NC_000001.10 - 25631436 Apr 25, 2020 (154)
55 KOREAN population from KRGDB NC_000001.10 - 25631436 Apr 25, 2020 (154)
56 Korean Genome Project NC_000001.11 - 25304945 Apr 25, 2020 (154)
57 Qatari NC_000001.10 - 25631436 Apr 25, 2020 (154)
58 SGDP_PRJ NC_000001.10 - 25631436 Apr 25, 2020 (154)
59 Siberian NC_000001.10 - 25631436 Apr 25, 2020 (154)
60 8.3KJPN NC_000001.10 - 25631436 Apr 25, 2021 (155)
61 14KJPN NC_000001.11 - 25304945 Oct 13, 2022 (156)
62 ALFA NC_000001.11 - 25304945 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).

Associated ID History Updated (Build)
rs74314671 Dec 02, 2009 (131)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
535650, ss3893358256 NC_000001.10:25631435:A:C NC_000001.11:25304944:A:C (self)
535650, ss3893358256 NC_000001.10:25631435:A:G NC_000001.11:25304944:A:G (self)
ss35468599 NC_000001.8:25376751:A:T NC_000001.11:25304944:A:T (self)
ss166262858, ss252992784, ss275758110, ss290793030, ss410773620 NC_000001.9:25504022:A:T NC_000001.11:25304944:A:T (self)
779496, 179772, 535650, 214120, 455391, 120547, 965303, ss218289860, ss230467020, ss238173537, ss553907233, ss647648255, ss974960350, ss1067744299, ss1290089520, ss1425750462, ss1918172190, ss1966707864, ss2019598107, ss2147604193, ss2624316027, ss2697509818, ss2752823274, ss2986488903, ss3745957191, ss3783357622, ss3789026520, ss3793899025, ss3826078507, ss3836427363, ss3848438411, ss3893358256, ss5142995996, ss5317423975, ss5625139276, ss5831688428, ss5936955920 NC_000001.10:25631435:A:T NC_000001.11:25304944:A:T (self)
1015479, 5449433, 444816, 1295077, 5976827678, ss3646626238, ss3686375213, ss3798977500, ss3841832162, ss3944066815, ss5513489544, ss5667457973, ss5800424531, ss5848828385, ss5907451703 NC_000001.11:25304944:A:T NC_000001.11:25304944:A:T (self)
ss99195175, ss105133899, ss139757875, ss154789597 NT_004610.19:12311523:A:T NC_000001.11:25304944: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 rs28685153

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