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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs28365015

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:183949777 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000178 (47/264690, TOPMED)
C=0.001094 (273/249492, GnomAD_exome)
C=0.000064 (9/140212, GnomAD) (+ 11 more)
C=0.000245 (32/130694, ALFA)
C=0.001267 (153/120730, ExAC)
C=0.00018 (14/78700, PAGE_STUDY)
C=0.00016 (2/12524, GO-ESP)
C=0.0031 (20/6404, 1000G_30x)
C=0.0038 (19/5008, 1000G)
C=0.0018 (2/1104, PharmGKB)
C=0.014 (3/216, Qatari)
C=0.017 (3/176, HapMap)
T=0.5 (2/4, SGDP_PRJ)
C=0.5 (2/4, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABCC5 : Missense 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 130694 T=0.999755 C=0.000245
European Sub 105754 T=0.999801 C=0.000199
African Sub 7900 T=0.9997 C=0.0003
African Others Sub 270 T=1.000 C=0.000
African American Sub 7630 T=0.9997 C=0.0003
Asian Sub 3690 T=1.0000 C=0.0000
East Asian Sub 2994 T=1.0000 C=0.0000
Other Asian Sub 696 T=1.000 C=0.000
Latin American 1 Sub 1158 T=0.9983 C=0.0017
Latin American 2 Sub 1172 T=1.0000 C=0.0000
South Asian Sub 344 T=0.997 C=0.003
Other Sub 10676 T=0.99944 C=0.00056


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=0.999822 C=0.000178
gnomAD - Exomes Global Study-wide 249492 T=0.998906 C=0.001094
gnomAD - Exomes European Sub 134784 T=0.999904 C=0.000096
gnomAD - Exomes Asian Sub 48574 T=0.99529 C=0.00471
gnomAD - Exomes American Sub 34524 T=0.99991 C=0.00009
gnomAD - Exomes African Sub 15486 T=0.99994 C=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10068 T=0.99801 C=0.00199
gnomAD - Exomes Other Sub 6056 T=0.9988 C=0.0012
gnomAD - Genomes Global Study-wide 140212 T=0.999936 C=0.000064
gnomAD - Genomes European Sub 75940 T=0.99993 C=0.00007
gnomAD - Genomes African Sub 42024 T=0.99995 C=0.00005
gnomAD - Genomes American Sub 13652 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.9997 C=0.0003
gnomAD - Genomes East Asian Sub 3128 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2148 T=0.9995 C=0.0005
Allele Frequency Aggregator Total Global 130694 T=0.999755 C=0.000245
Allele Frequency Aggregator European Sub 105754 T=0.999801 C=0.000199
Allele Frequency Aggregator Other Sub 10676 T=0.99944 C=0.00056
Allele Frequency Aggregator African Sub 7900 T=0.9997 C=0.0003
Allele Frequency Aggregator Asian Sub 3690 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1172 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1158 T=0.9983 C=0.0017
Allele Frequency Aggregator South Asian Sub 344 T=0.997 C=0.003
ExAC Global Study-wide 120730 T=0.998733 C=0.001267
ExAC Europe Sub 73326 T=0.99982 C=0.00018
ExAC Asian Sub 25130 T=0.99467 C=0.00533
ExAC American Sub 11572 T=0.99983 C=0.00017
ExAC African Sub 9802 T=0.9999 C=0.0001
ExAC Other Sub 900 T=0.997 C=0.003
The PAGE Study Global Study-wide 78700 T=0.99982 C=0.00018
The PAGE Study AfricanAmerican Sub 32516 T=0.99997 C=0.00003
The PAGE Study Mexican Sub 10810 T=0.99991 C=0.00009
The PAGE Study Asian Sub 8316 T=1.0000 C=0.0000
The PAGE Study PuertoRican Sub 7918 T=0.9999 C=0.0001
The PAGE Study NativeHawaiian Sub 4534 T=1.0000 C=0.0000
The PAGE Study Cuban Sub 4230 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 1982 T=1.0000 C=0.0000
The PAGE Study NativeAmerican Sub 1260 T=1.0000 C=0.0000
The PAGE Study SouthAsian Sub 856 T=0.987 C=0.013
GO Exome Sequencing Project Global Study-wide 12524 T=0.99984 C=0.00016
GO Exome Sequencing Project European American Sub 8394 T=0.9998 C=0.0002
GO Exome Sequencing Project African American Sub 4130 T=1.0000 C=0.0000
1000Genomes_30x Global Study-wide 6404 T=0.9969 C=0.0031
1000Genomes_30x African Sub 1786 T=1.0000 C=0.0000
1000Genomes_30x Europe Sub 1266 T=1.0000 C=0.0000
1000Genomes_30x South Asian Sub 1202 T=0.9834 C=0.0166
1000Genomes_30x East Asian Sub 1170 T=1.0000 C=0.0000
1000Genomes_30x American Sub 980 T=1.000 C=0.000
1000Genomes Global Study-wide 5008 T=0.9962 C=0.0038
1000Genomes African Sub 1322 T=1.0000 C=0.0000
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=0.981 C=0.019
1000Genomes American Sub 694 T=1.000 C=0.000
PharmGKB Aggregated Global Study-wide 1104 T=0.9982 C=0.0018
PharmGKB Aggregated PA133144397 Sub 552 T=0.998 C=0.002
PharmGKB Aggregated PA133288959 Sub 552 T=0.998 C=0.002
Qatari Global Study-wide 216 T=0.986 C=0.014
HapMap Global Study-wide 176 T=0.983 C=0.017
HapMap American Sub 176 T=0.983 C=0.017
SGDP_PRJ Global Study-wide 4 T=0.5 C=0.5
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 3 NC_000003.12:g.183949777T>C
GRCh37.p13 chr 3 NC_000003.11:g.183667565T>C
ABCC5 RefSeqGene NG_047115.1:g.73234A>G
Gene: ABCC5, ATP binding cassette subfamily C member 5 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCC5 transcript variant 2 NM_001023587.3:c. N/A Genic Downstream Transcript Variant
ABCC5 transcript variant 1 NM_005688.4:c.3203A>G N [AAT] > S [AGT] Coding Sequence Variant
ATP-binding cassette sub-family C member 5 isoform 1 NP_005679.2:p.Asn1068Ser N (Asn) > S (Ser) Missense Variant
ABCC5 transcript variant 3 NM_001320032.2:c.1787A>G N [AAT] > S [AGT] Coding Sequence Variant
ATP-binding cassette sub-family C member 5 isoform 3 NP_001306961.1:p.Asn596Ser N (Asn) > S (Ser) Missense Variant
ABCC5 transcript variant 4 NR_135125.2:n. N/A Genic Downstream Transcript Variant
ABCC5 transcript variant X5 XM_017005493.2:c. N/A Genic Downstream Transcript Variant
ABCC5 transcript variant X6 XM_047447099.1:c. N/A Genic Downstream Transcript Variant
ABCC5 transcript variant X7 XM_047447100.1:c. N/A Genic Downstream Transcript Variant
ABCC5 transcript variant X1 XM_005247059.6:c.3203A>G N [AAT] > S [AGT] Coding Sequence Variant
ATP-binding cassette sub-family C member 5 isoform X1 XP_005247116.1:p.Asn1068S…

XP_005247116.1:p.Asn1068Ser

 		N (Asn) > S (Ser) Missense Variant
ABCC5 transcript variant X2 XM_011512314.3:c.3203A>G N [AAT] > S [AGT] Coding Sequence Variant
ATP-binding cassette sub-family C member 5 isoform X1 XP_011510616.1:p.Asn1068S…

XP_011510616.1:p.Asn1068Ser

 		N (Asn) > S (Ser) Missense Variant
ABCC5 transcript variant X3 XM_047447098.1:c.3203A>G N [AAT] > S [AGT] Coding Sequence Variant
ATP-binding cassette sub-family C member 5 isoform X1 XP_047303054.1:p.Asn1068S…

XP_047303054.1:p.Asn1068Ser

 		N (Asn) > S (Ser) Missense Variant
ABCC5 transcript variant X4 XM_011512315.2:c.3203A>G N [AAT] > S [AGT] Coding Sequence Variant
ATP-binding cassette sub-family C member 5 isoform X2 XP_011510617.1:p.Asn1068S…

XP_011510617.1:p.Asn1068Ser

 		N (Asn) > S (Ser) Missense 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= C
GRCh38.p14 chr 3 NC_000003.12:g.183949777= NC_000003.12:g.183949777T>C
GRCh37.p13 chr 3 NC_000003.11:g.183667565= NC_000003.11:g.183667565T>C
ABCC5 RefSeqGene NG_047115.1:g.73234= NG_047115.1:g.73234A>G
ABCC5 transcript variant 1 NM_005688.4:c.3203= NM_005688.4:c.3203A>G
ABCC5 transcript variant 1 NM_005688.3:c.3203= NM_005688.3:c.3203A>G
ABCC5 transcript variant 1 NM_005688.2:c.3203= NM_005688.2:c.3203A>G
ABCC5 transcript variant 3 NM_001320032.2:c.1787= NM_001320032.2:c.1787A>G
ABCC5 transcript variant 3 NM_001320032.1:c.1787= NM_001320032.1:c.1787A>G
ABCC5 transcript variant X1 XM_005247059.6:c.3203= XM_005247059.6:c.3203A>G
ABCC5 transcript variant X2 XM_005247059.5:c.3203= XM_005247059.5:c.3203A>G
ABCC5 transcript variant X2 XM_005247059.4:c.3203= XM_005247059.4:c.3203A>G
ABCC5 transcript variant X2 XM_005247059.3:c.3203= XM_005247059.3:c.3203A>G
ABCC5 transcript variant X2 XM_005247059.2:c.3203= XM_005247059.2:c.3203A>G
ABCC5 transcript variant X2 XM_005247059.1:c.3203= XM_005247059.1:c.3203A>G
ABCC5 transcript variant X2 XM_011512314.3:c.3203= XM_011512314.3:c.3203A>G
ABCC5 transcript variant X3 XM_011512314.2:c.3203= XM_011512314.2:c.3203A>G
ABCC5 transcript variant X3 XM_011512314.1:c.3203= XM_011512314.1:c.3203A>G
ABCC5 transcript variant X4 XM_011512315.2:c.3203= XM_011512315.2:c.3203A>G
ABCC5 transcript variant X4 XM_011512315.1:c.3203= XM_011512315.1:c.3203A>G
ABCC5 transcript variant X3 XM_047447098.1:c.3203= XM_047447098.1:c.3203A>G
ATP-binding cassette sub-family C member 5 isoform 1 NP_005679.2:p.Asn1068= NP_005679.2:p.Asn1068Ser
ATP-binding cassette sub-family C member 5 isoform 3 NP_001306961.1:p.Asn596= NP_001306961.1:p.Asn596Ser
ATP-binding cassette sub-family C member 5 isoform X1 XP_005247116.1:p.Asn1068= XP_005247116.1:p.Asn1068Ser
ATP-binding cassette sub-family C member 5 isoform X1 XP_011510616.1:p.Asn1068= XP_011510616.1:p.Asn1068Ser
ATP-binding cassette sub-family C member 5 isoform X2 XP_011510617.1:p.Asn1068= XP_011510617.1:p.Asn1068Ser
ATP-binding cassette sub-family C member 5 isoform X1 XP_047303054.1:p.Asn1068= XP_047303054.1:p.Asn1068Ser
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#.

43 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 PHARMGKB_PMT ss69364721 May 18, 2007 (127)
2 PHARMGKB_PMT ss69364764 May 18, 2007 (127)
3 ILLUMINA ss75266913 Dec 07, 2007 (129)
4 ILLUMINA ss160585808 Dec 01, 2009 (131)
5 ILLUMINA ss173487815 Jul 04, 2010 (132)
6 ILLUMINA ss481557496 Sep 08, 2015 (146)
7 CLINSEQ_SNP ss491846132 May 04, 2012 (137)
8 ILLUMINA ss537134371 Sep 08, 2015 (146)
9 NHLBI-ESP ss712561774 Apr 25, 2013 (138)
10 JMKIDD_LAB ss1067457331 Aug 21, 2014 (142)
11 JMKIDD_LAB ss1071121421 Aug 21, 2014 (142)
12 1000GENOMES ss1307609390 Aug 21, 2014 (142)
13 DDI ss1429697840 Apr 01, 2015 (144)
14 EVA_EXAC ss1687311776 Apr 01, 2015 (144)
15 EVA_SVP ss1712637183 Apr 01, 2015 (144)
16 WEILL_CORNELL_DGM ss1922764123 Feb 12, 2016 (147)
17 ILLUMINA ss1958635972 Feb 12, 2016 (147)
18 HUMAN_LONGEVITY ss2258875249 Dec 20, 2016 (150)
19 GNOMAD ss2734229293 Nov 08, 2017 (151)
20 GNOMAD ss2747147852 Nov 08, 2017 (151)
21 GNOMAD ss2803307176 Nov 08, 2017 (151)
22 ILLUMINA ss3022321437 Nov 08, 2017 (151)
23 ILLUMINA ss3628854034 Oct 12, 2018 (152)
24 ILLUMINA ss3636629675 Oct 12, 2018 (152)
25 ILLUMINA ss3638460671 Oct 12, 2018 (152)
26 ILLUMINA ss3643414079 Oct 12, 2018 (152)
27 ILLUMINA ss3652802778 Oct 12, 2018 (152)
28 ILLUMINA ss3726088765 Jul 13, 2019 (153)
29 PAGE_CC ss3771088799 Jul 13, 2019 (153)
30 EVA ss3823977986 Apr 25, 2020 (154)
31 SGDP_PRJ ss3857738769 Apr 25, 2020 (154)
32 FSA-LAB ss3984269202 Apr 27, 2021 (155)
33 FSA-LAB ss3984269203 Apr 27, 2021 (155)
34 EVA ss3986263317 Apr 27, 2021 (155)
35 EVA ss4017122981 Apr 27, 2021 (155)
36 TOPMED ss4596337276 Apr 27, 2021 (155)
37 1000G_HIGH_COVERAGE ss5257297982 Oct 13, 2022 (156)
38 EVA ss5345595135 Oct 13, 2022 (156)
39 HUGCELL_USP ss5456316133 Oct 13, 2022 (156)
40 1000G_HIGH_COVERAGE ss5537409244 Oct 13, 2022 (156)
41 SANFORD_IMAGENETICS ss5633916827 Oct 13, 2022 (156)
42 EVA ss5872460786 Oct 13, 2022 (156)
43 EVA ss5979682814 Oct 13, 2022 (156)
44 1000Genomes NC_000003.11 - 183667565 Oct 12, 2018 (152)
45 1000Genomes_30x NC_000003.12 - 183949777 Oct 13, 2022 (156)
46 ExAC NC_000003.11 - 183667565 Oct 12, 2018 (152)
47 gnomAD - Genomes NC_000003.12 - 183949777 Apr 27, 2021 (155)
48 gnomAD - Exomes NC_000003.11 - 183667565 Jul 13, 2019 (153)
49 GO Exome Sequencing Project NC_000003.11 - 183667565 Oct 12, 2018 (152)
50 HapMap NC_000003.12 - 183949777 Apr 25, 2020 (154)
51 The PAGE Study NC_000003.12 - 183949777 Jul 13, 2019 (153)
52 PharmGKB Aggregated NC_000003.12 - 183949777 Apr 25, 2020 (154)
53 Qatari NC_000003.11 - 183667565 Apr 25, 2020 (154)
54 SGDP_PRJ NC_000003.11 - 183667565 Apr 25, 2020 (154)
55 TopMed NC_000003.12 - 183949777 Apr 27, 2021 (155)
56 ALFA NC_000003.12 - 183949777 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).

Associated ID History Updated (Build)
rs45617932 Mar 05, 2008 (129)
rs386574708 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491846132, ss1712637183, ss3643414079 NC_000003.10:185150258:T:C NC_000003.12:183949776:T:C (self)
18929052, 7260336, 3322333, 436260, 4806053, 9755749, ss481557496, ss537134371, ss712561774, ss1067457331, ss1071121421, ss1307609390, ss1429697840, ss1687311776, ss1922764123, ss1958635972, ss2734229293, ss2747147852, ss2803307176, ss3022321437, ss3628854034, ss3636629675, ss3638460671, ss3652802778, ss3823977986, ss3857738769, ss3984269202, ss3984269203, ss3986263317, ss4017122981, ss5345595135, ss5633916827, ss5979682814 NC_000003.11:183667564:T:C NC_000003.12:183949776:T:C (self)
24935179, 134477060, 2524476, 310268, 9088, 433714831, 980744788, ss2258875249, ss3726088765, ss3771088799, ss4596337276, ss5257297982, ss5456316133, ss5537409244, ss5872460786 NC_000003.12:183949776:T:C NC_000003.12:183949776:T:C (self)
ss69364721, ss69364764, ss75266913, ss160585808, ss173487815 NT_005612.16:90162710:T:C NC_000003.12:183949776: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 rs28365015

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