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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.

rs772710739

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:51974568 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000038 (10/264690, TOPMED)
G=0.000004 (1/249452, GnomAD_exome)
G=0.000043 (6/140240, GnomAD) (+ 2 more)
G=0.000008 (1/120686, ExAC)
G=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATP7B : 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 30412 T=0.99997 G=0.00003
European Sub 19780 T=1.00000 G=0.00000
African Sub 7736 T=1.0000 G=0.0000
African Others Sub 298 T=1.000 G=0.000
African American Sub 7438 T=1.0000 G=0.0000
Asian Sub 112 T=1.000 G=0.000
East Asian Sub 86 T=1.00 G=0.00
Other Asian Sub 26 T=1.00 G=0.00
Latin American 1 Sub 146 T=1.000 G=0.000
Latin American 2 Sub 610 T=1.000 G=0.000
South Asian Sub 98 T=1.00 G=0.00
Other Sub 1930 T=0.9995 G=0.0005


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=0.999962 G=0.000038
gnomAD - Exomes Global Study-wide 249452 T=0.999996 G=0.000004
gnomAD - Exomes European Sub 134750 T=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48576 T=1.00000 G=0.00000
gnomAD - Exomes American Sub 34520 T=1.00000 G=0.00000
gnomAD - Exomes African Sub 15486 T=0.99994 G=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10070 T=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6050 T=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140240 T=0.999957 G=0.000043
gnomAD - Genomes European Sub 75946 T=1.00000 G=0.00000
gnomAD - Genomes African Sub 42026 T=0.99986 G=0.00014
gnomAD - Genomes American Sub 13658 T=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3132 T=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 T=1.0000 G=0.0000
ExAC Global Study-wide 120686 T=0.999992 G=0.000008
ExAC Europe Sub 73296 T=1.00000 G=0.00000
ExAC Asian Sub 25136 T=1.00000 G=0.00000
ExAC American Sub 11576 T=1.00000 G=0.00000
ExAC African Sub 9782 T=0.9999 G=0.0001
ExAC Other Sub 896 T=1.000 G=0.000
Allele Frequency Aggregator Total Global 14050 T=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 G=0.00
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 13 NC_000013.11:g.51974568T>G
GRCh37.p13 chr 13 NC_000013.10:g.52548704T>G
ATP7B RefSeqGene NG_008806.1:g.41927A>C
Gene: ATP7B, ATPase copper transporting beta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP7B transcript variant 1 NM_000053.4:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform a NP_000044.2:p.Ser218Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant 5 NM_001330579.2:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform e NP_001317508.1:p.Ser218Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant 2 NM_001005918.3:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform b NP_001005918.1:p.Ser218Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant 3 NM_001243182.2:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform c NP_001230111.1:p.Ser218Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant 4 NM_001330578.2:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform d NP_001317507.1:p.Ser218Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X13 XM_047430390.1:c. N/A Genic Upstream Transcript Variant
ATP7B transcript variant X14 XM_047430391.1:c. N/A Genic Upstream Transcript Variant
ATP7B transcript variant X15 XM_047430392.1:c. N/A Genic Upstream Transcript Variant
ATP7B transcript variant X16 XM_047430393.1:c. N/A Genic Upstream Transcript Variant
ATP7B transcript variant X1 XM_005266430.5:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X1 XP_005266487.1:p.Ser218Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X2 XM_005266431.5:c.616A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X2 XP_005266488.1:p.Ser206Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X3 XM_005266424.5:c.556A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_005266481.1:p.Ser186Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X4 XM_006719837.4:c.556A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_006719900.1:p.Ser186Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X5 XM_005266423.3:c.556A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_005266480.1:p.Ser186Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X6 XM_017020627.2:c.556A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_016876116.1:p.Ser186Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X7 XM_011535117.4:c.556A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_011533419.1:p.Ser186Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X8 XM_047430385.1:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X4 XP_047286341.1:p.Ser218Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X9 XM_047430386.1:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X5 XP_047286342.1:p.Ser218Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X10 XM_047430387.1:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X6 XP_047286343.1:p.Ser218Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X11 XM_047430388.1:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X7 XP_047286344.1:p.Ser218Arg S (Ser) > R (Arg) Missense Variant
ATP7B transcript variant X12 XM_047430389.1:c.652A>C S [AGC] > R [CGC] Coding Sequence Variant
copper-transporting ATPase 2 isoform X8 XP_047286345.1:p.Ser218Arg S (Ser) > R (Arg) 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= G
GRCh38.p14 chr 13 NC_000013.11:g.51974568= NC_000013.11:g.51974568T>G
GRCh37.p13 chr 13 NC_000013.10:g.52548704= NC_000013.10:g.52548704T>G
ATP7B RefSeqGene NG_008806.1:g.41927= NG_008806.1:g.41927A>C
ATP7B transcript variant 1 NM_000053.4:c.652= NM_000053.4:c.652A>C
ATP7B transcript variant 1 NM_000053.3:c.652= NM_000053.3:c.652A>C
ATP7B transcript variant 2 NM_001005918.3:c.652= NM_001005918.3:c.652A>C
ATP7B transcript variant 2 NM_001005918.2:c.652= NM_001005918.2:c.652A>C
ATP7B transcript variant 4 NM_001330578.2:c.652= NM_001330578.2:c.652A>C
ATP7B transcript variant 4 NM_001330578.1:c.652= NM_001330578.1:c.652A>C
ATP7B transcript variant 5 NM_001330579.2:c.652= NM_001330579.2:c.652A>C
ATP7B transcript variant 5 NM_001330579.1:c.652= NM_001330579.1:c.652A>C
ATP7B transcript variant 3 NM_001243182.2:c.652= NM_001243182.2:c.652A>C
ATP7B transcript variant 3 NM_001243182.1:c.652= NM_001243182.1:c.652A>C
ATP7B transcript variant 7 NM_001406512.1:c.652= NM_001406512.1:c.652A>C
ATP7B transcript variant 11 NM_001406516.1:c.652= NM_001406516.1:c.652A>C
ATP7B transcript variant 26 NM_001406532.1:c.652= NM_001406532.1:c.652A>C
ATP7B transcript variant 17 NM_001406522.1:c.652= NM_001406522.1:c.652A>C
ATP7B transcript variant 13 NM_001406518.1:c.556= NM_001406518.1:c.556A>C
ATP7B transcript variant 6 NM_001406511.1:c.652= NM_001406511.1:c.652A>C
ATP7B transcript variant 8 NM_001406513.1:c.652= NM_001406513.1:c.652A>C
ATP7B transcript variant 23 NM_001406528.1:c.652= NM_001406528.1:c.652A>C
ATP7B transcript variant 9 NM_001406514.1:c.652= NM_001406514.1:c.652A>C
ATP7B transcript variant 10 NM_001406515.1:c.652= NM_001406515.1:c.652A>C
ATP7B transcript variant 16 NM_001406521.1:c.652= NM_001406521.1:c.652A>C
ATP7B transcript variant 12 NM_001406517.1:c.556= NM_001406517.1:c.556A>C
ATP7B transcript variant 14 NM_001406519.1:c.652= NM_001406519.1:c.652A>C
ATP7B transcript variant 15 NM_001406520.1:c.652= NM_001406520.1:c.652A>C
ATP7B transcript variant 18 NM_001406524.1:c.652= NM_001406524.1:c.652A>C
ATP7B transcript variant 22 NM_001406527.1:c.652= NM_001406527.1:c.652A>C
ATP7B transcript variant 19 NM_001406523.1:c.652= NM_001406523.1:c.652A>C
ATP7B transcript variant 20 NM_001406525.1:c.652= NM_001406525.1:c.652A>C
ATP7B transcript variant 25 NM_001406531.1:c.652= NM_001406531.1:c.652A>C
ATP7B transcript variant 21 NM_001406526.1:c.652= NM_001406526.1:c.652A>C
ATP7B transcript variant 24 NM_001406530.1:c.556= NM_001406530.1:c.556A>C
ATP7B transcript variant 30 NM_001406537.1:c.652= NM_001406537.1:c.652A>C
ATP7B transcript variant 27 NM_001406534.1:c.652= NM_001406534.1:c.652A>C
ATP7B transcript variant 32 NM_001406539.1:c.556= NM_001406539.1:c.556A>C
ATP7B transcript variant 36 NM_001406543.1:c.556= NM_001406543.1:c.556A>C
ATP7B transcript variant 29 NM_001406536.1:c.556= NM_001406536.1:c.556A>C
ATP7B transcript variant 28 NM_001406535.1:c.652= NM_001406535.1:c.652A>C
ATP7B transcript variant 31 NM_001406538.1:c.652= NM_001406538.1:c.652A>C
ATP7B transcript variant 34 NM_001406541.1:c.652= NM_001406541.1:c.652A>C
ATP7B transcript variant 33 NM_001406540.1:c.652= NM_001406540.1:c.652A>C
ATP7B transcript variant 35 NM_001406542.1:c.652= NM_001406542.1:c.652A>C
ATP7B transcript variant 37 NM_001406544.1:c.556= NM_001406544.1:c.556A>C
ATP7B transcript variant 38 NM_001406545.1:c.652= NM_001406545.1:c.652A>C
ATP7B transcript variant 39 NM_001406546.1:c.652= NM_001406546.1:c.652A>C
ATP7B transcript variant 40 NM_001406547.1:c.652= NM_001406547.1:c.652A>C
ATP7B transcript variant 41 NM_001406548.1:c.652= NM_001406548.1:c.652A>C
ATP7B transcript variant X1 XM_005266430.5:c.652= XM_005266430.5:c.652A>C
ATP7B transcript variant X3 XM_005266424.5:c.556= XM_005266424.5:c.556A>C
ATP7B transcript variant X4 XM_005266424.4:c.556= XM_005266424.4:c.556A>C
ATP7B transcript variant X7 XM_005266424.3:c.556= XM_005266424.3:c.556A>C
ATP7B transcript variant X2 XM_005266424.2:c.556= XM_005266424.2:c.556A>C
ATP7B transcript variant X2 XM_005266424.1:c.556= XM_005266424.1:c.556A>C
ATP7B transcript variant X2 XM_005266431.5:c.616= XM_005266431.5:c.616A>C
ATP7B transcript variant X3 XM_005266431.4:c.616= XM_005266431.4:c.616A>C
ATP7B transcript variant X12 XM_005266431.3:c.616= XM_005266431.3:c.616A>C
ATP7B transcript variant X6 XM_005266431.2:c.616= XM_005266431.2:c.616A>C
ATP7B transcript variant X9 XM_005266431.1:c.616= XM_005266431.1:c.616A>C
ATP7B transcript variant X7 XM_011535117.4:c.556= XM_011535117.4:c.556A>C
ATP7B transcript variant X7 XM_011535117.3:c.556= XM_011535117.3:c.556A>C
ATP7B transcript variant X6 XM_011535117.2:c.556= XM_011535117.2:c.556A>C
ATP7B transcript variant X10 XM_011535117.1:c.556= XM_011535117.1:c.556A>C
ATP7B transcript variant X4 XM_006719837.4:c.556= XM_006719837.4:c.556A>C
ATP7B transcript variant X5 XM_005266423.3:c.556= XM_005266423.3:c.556A>C
ATP7B transcript variant X6 XM_005266423.2:c.556= XM_005266423.2:c.556A>C
ATP7B transcript variant X1 XM_005266423.1:c.556= XM_005266423.1:c.556A>C
ATP7B transcript variant X6 XM_017020627.2:c.556= XM_017020627.2:c.556A>C
ATP7B transcript variant X8 XM_017020627.1:c.556= XM_017020627.1:c.556A>C
ATP7B transcript variant X8 XM_047430385.1:c.652= XM_047430385.1:c.652A>C
ATP7B transcript variant X10 XM_047430387.1:c.652= XM_047430387.1:c.652A>C
ATP7B transcript variant X9 XM_047430386.1:c.652= XM_047430386.1:c.652A>C
ATP7B transcript variant X11 XM_047430388.1:c.652= XM_047430388.1:c.652A>C
ATP7B transcript variant X12 XM_047430389.1:c.652= XM_047430389.1:c.652A>C
copper-transporting ATPase 2 isoform a NP_000044.2:p.Ser218= NP_000044.2:p.Ser218Arg
copper-transporting ATPase 2 isoform b NP_001005918.1:p.Ser218= NP_001005918.1:p.Ser218Arg
copper-transporting ATPase 2 isoform d NP_001317507.1:p.Ser218= NP_001317507.1:p.Ser218Arg
copper-transporting ATPase 2 isoform e NP_001317508.1:p.Ser218= NP_001317508.1:p.Ser218Arg
copper-transporting ATPase 2 isoform c NP_001230111.1:p.Ser218= NP_001230111.1:p.Ser218Arg
copper-transporting ATPase 2 isoform X1 XP_005266487.1:p.Ser218= XP_005266487.1:p.Ser218Arg
copper-transporting ATPase 2 isoform X3 XP_005266481.1:p.Ser186= XP_005266481.1:p.Ser186Arg
copper-transporting ATPase 2 isoform X2 XP_005266488.1:p.Ser206= XP_005266488.1:p.Ser206Arg
copper-transporting ATPase 2 isoform X3 XP_011533419.1:p.Ser186= XP_011533419.1:p.Ser186Arg
copper-transporting ATPase 2 isoform X3 XP_006719900.1:p.Ser186= XP_006719900.1:p.Ser186Arg
copper-transporting ATPase 2 isoform X3 XP_005266480.1:p.Ser186= XP_005266480.1:p.Ser186Arg
copper-transporting ATPase 2 isoform X3 XP_016876116.1:p.Ser186= XP_016876116.1:p.Ser186Arg
copper-transporting ATPase 2 isoform X4 XP_047286341.1:p.Ser218= XP_047286341.1:p.Ser218Arg
copper-transporting ATPase 2 isoform X6 XP_047286343.1:p.Ser218= XP_047286343.1:p.Ser218Arg
copper-transporting ATPase 2 isoform X5 XP_047286342.1:p.Ser218= XP_047286342.1:p.Ser218Arg
copper-transporting ATPase 2 isoform X7 XP_047286344.1:p.Ser218= XP_047286344.1:p.Ser218Arg
copper-transporting ATPase 2 isoform X8 XP_047286345.1:p.Ser218= XP_047286345.1:p.Ser218Arg
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#.

5 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1691297458 Apr 01, 2015 (144)
2 HUMAN_LONGEVITY ss2196420832 Dec 20, 2016 (150)
3 GNOMAD ss2749050384 Nov 08, 2017 (151)
4 GNOMAD ss2919772522 Nov 08, 2017 (151)
5 TOPMED ss4946676015 Apr 26, 2021 (155)
6 ExAC NC_000013.10 - 52548704 Oct 12, 2018 (152)
7 gnomAD - Genomes NC_000013.11 - 51974568 Apr 26, 2021 (155)
8 gnomAD - Exomes NC_000013.10 - 52548704 Jul 13, 2019 (153)
9 TopMed NC_000013.11 - 51974568 Apr 26, 2021 (155)
10 ALFA NC_000013.11 - 51974568 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1627359, 9670880, ss1691297458, ss2749050384, ss2919772522 NC_000013.10:52548703:T:G NC_000013.11:51974567:T:G (self)
431035393, 162221673, 6264025158, ss2196420832, ss4946676015 NC_000013.11:51974567:T:G NC_000013.11:51974567:T:G (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 rs772710739

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