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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.

rs751798708

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:51958331 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000011 (3/264690, TOPMED)
C=0.000007 (1/140276, GnomAD)
C=0.000008 (1/120308, ExAC) (+ 1 more)
C=0.00000 (0/14528, ALFA)
Clinical Significance
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 14528 A=1.00000 C=0.00000
European Sub 9690 A=1.0000 C=0.0000
African Sub 3324 A=1.0000 C=0.0000
African Others Sub 114 A=1.000 C=0.000
African American Sub 3210 A=1.0000 C=0.0000
Asian Sub 112 A=1.000 C=0.000
East Asian Sub 86 A=1.00 C=0.00
Other Asian Sub 26 A=1.00 C=0.00
Latin American 1 Sub 146 A=1.000 C=0.000
Latin American 2 Sub 610 A=1.000 C=0.000
South Asian Sub 98 A=1.00 C=0.00
Other Sub 548 A=1.000 C=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 A=0.999989 C=0.000011
gnomAD - Genomes Global Study-wide 140276 A=0.999993 C=0.000007
gnomAD - Genomes European Sub 75956 A=0.99999 C=0.00001
gnomAD - Genomes African Sub 42048 A=1.00000 C=0.00000
gnomAD - Genomes American Sub 13660 A=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 A=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 A=1.0000 C=0.0000
ExAC Global Study-wide 120308 A=0.999992 C=0.000008
ExAC Europe Sub 73026 A=0.99999 C=0.00001
ExAC Asian Sub 25124 A=1.00000 C=0.00000
ExAC American Sub 11568 A=1.00000 C=0.00000
ExAC African Sub 9694 A=1.0000 C=0.0000
ExAC Other Sub 896 A=1.000 C=0.000
Allele Frequency Aggregator Total Global 14528 A=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 A=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 3324 A=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 C=0.000
Allele Frequency Aggregator Other Sub 548 A=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 C=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.51958331A>C
GRCh37.p13 chr 13 NC_000013.10:g.52532467A>C
ATP7B RefSeqGene NG_008806.1:g.58164T>G
Gene: ATP7B, ATPase copper transporting beta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP7B transcript variant 2 NM_001005918.3:c.1870-724…

NM_001005918.3:c.1870-724T>G

N/A Intron Variant
ATP7B transcript variant 4 NM_001330578.2:c.2122-724…

NM_001330578.2:c.2122-724T>G

N/A Intron Variant
ATP7B transcript variant 1 NM_000053.4:c.2335T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform a NP_000044.2:p.Trp779Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant 5 NM_001330579.2:c.2083T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform e NP_001317508.1:p.Trp695Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant 3 NM_001243182.2:c.2002T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform c NP_001230111.1:p.Trp668Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X10 XM_047430387.1:c.2122-724…

XM_047430387.1:c.2122-724T>G

N/A Intron Variant
ATP7B transcript variant X12 XM_047430389.1:c.1870-724…

XM_047430389.1:c.1870-724T>G

N/A Intron Variant
ATP7B transcript variant X1 XM_005266430.5:c.2335T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X1 XP_005266487.1:p.Trp779Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X2 XM_005266431.5:c.2299T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X2 XP_005266488.1:p.Trp767Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X3 XM_005266424.5:c.2239T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_005266481.1:p.Trp747Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X4 XM_006719837.4:c.2239T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_006719900.1:p.Trp747Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X5 XM_005266423.3:c.2239T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_005266480.1:p.Trp747Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X6 XM_017020627.2:c.2239T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_016876116.1:p.Trp747Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X7 XM_011535117.4:c.2239T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X3 XP_011533419.1:p.Trp747Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X8 XM_047430385.1:c.2335T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X4 XP_047286341.1:p.Trp779Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X9 XM_047430386.1:c.2335T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X5 XP_047286342.1:p.Trp779Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X11 XM_047430388.1:c.2083T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X7 XP_047286344.1:p.Trp695Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X13 XM_047430390.1:c.1003T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X9 XP_047286346.1:p.Trp335Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X14 XM_047430391.1:c.343T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X10 XP_047286347.1:p.Trp115Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X15 XM_047430392.1:c.151T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X11 XP_047286348.1:p.Trp51Gly W (Trp) > G (Gly) Missense Variant
ATP7B transcript variant X16 XM_047430393.1:c.151T>G W [TGG] > G [GGG] Coding Sequence Variant
copper-transporting ATPase 2 isoform X12 XP_047286349.1:p.Trp51Gly W (Trp) > G (Gly) 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.

Allele: C (allele ID: 547056 )
ClinVar Accession Disease Names Clinical Significance
RCV000673490.2 Wilson disease Pathogenic-Likely-Pathogenic
RCV001091640.7 not provided Likely-Pathogenic
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
GRCh38.p14 chr 13 NC_000013.11:g.51958331= NC_000013.11:g.51958331A>C
GRCh37.p13 chr 13 NC_000013.10:g.52532467= NC_000013.10:g.52532467A>C
ATP7B RefSeqGene NG_008806.1:g.58164= NG_008806.1:g.58164T>G
ATP7B transcript variant 1 NM_000053.4:c.2335= NM_000053.4:c.2335T>G
ATP7B transcript variant 1 NM_000053.3:c.2335= NM_000053.3:c.2335T>G
ATP7B transcript variant 5 NM_001330579.2:c.2083= NM_001330579.2:c.2083T>G
ATP7B transcript variant 5 NM_001330579.1:c.2083= NM_001330579.1:c.2083T>G
ATP7B transcript variant 3 NM_001243182.2:c.2002= NM_001243182.2:c.2002T>G
ATP7B transcript variant 3 NM_001243182.1:c.2002= NM_001243182.1:c.2002T>G
ATP7B transcript variant 7 NM_001406512.1:c.2335= NM_001406512.1:c.2335T>G
ATP7B transcript variant 11 NM_001406516.1:c.2335= NM_001406516.1:c.2335T>G
ATP7B transcript variant 26 NM_001406532.1:c.2083= NM_001406532.1:c.2083T>G
ATP7B transcript variant 17 NM_001406522.1:c.2191= NM_001406522.1:c.2191T>G
ATP7B transcript variant 13 NM_001406518.1:c.2239= NM_001406518.1:c.2239T>G
ATP7B transcript variant 6 NM_001406511.1:c.2335= NM_001406511.1:c.2335T>G
ATP7B transcript variant 8 NM_001406513.1:c.2335= NM_001406513.1:c.2335T>G
ATP7B transcript variant 9 NM_001406514.1:c.2302= NM_001406514.1:c.2302T>G
ATP7B transcript variant 10 NM_001406515.1:c.2335= NM_001406515.1:c.2335T>G
ATP7B transcript variant 16 NM_001406521.1:c.2191= NM_001406521.1:c.2191T>G
ATP7B transcript variant 12 NM_001406517.1:c.2239= NM_001406517.1:c.2239T>G
ATP7B transcript variant 14 NM_001406519.1:c.2335= NM_001406519.1:c.2335T>G
ATP7B transcript variant 15 NM_001406520.1:c.2191= NM_001406520.1:c.2191T>G
ATP7B transcript variant 18 NM_001406524.1:c.2158= NM_001406524.1:c.2158T>G
ATP7B transcript variant 19 NM_001406523.1:c.2335= NM_001406523.1:c.2335T>G
ATP7B transcript variant 20 NM_001406525.1:c.2335= NM_001406525.1:c.2335T>G
ATP7B transcript variant 25 NM_001406531.1:c.2083= NM_001406531.1:c.2083T>G
ATP7B transcript variant 21 NM_001406526.1:c.2335= NM_001406526.1:c.2335T>G
ATP7B transcript variant 24 NM_001406530.1:c.2095= NM_001406530.1:c.2095T>G
ATP7B transcript variant 30 NM_001406537.1:c.2191= NM_001406537.1:c.2191T>G
ATP7B transcript variant 32 NM_001406539.1:c.1906= NM_001406539.1:c.1906T>G
ATP7B transcript variant 36 NM_001406543.1:c.1987= NM_001406543.1:c.1987T>G
ATP7B transcript variant 28 NM_001406535.1:c.2335= NM_001406535.1:c.2335T>G
ATP7B transcript variant 33 NM_001406540.1:c.2083= NM_001406540.1:c.2083T>G
ATP7B transcript variant X1 XM_005266430.5:c.2335= XM_005266430.5:c.2335T>G
ATP7B transcript variant X3 XM_005266424.5:c.2239= XM_005266424.5:c.2239T>G
ATP7B transcript variant X4 XM_005266424.4:c.2239= XM_005266424.4:c.2239T>G
ATP7B transcript variant X7 XM_005266424.3:c.2239= XM_005266424.3:c.2239T>G
ATP7B transcript variant X2 XM_005266424.2:c.2239= XM_005266424.2:c.2239T>G
ATP7B transcript variant X2 XM_005266424.1:c.2239= XM_005266424.1:c.2239T>G
ATP7B transcript variant X2 XM_005266431.5:c.2299= XM_005266431.5:c.2299T>G
ATP7B transcript variant X3 XM_005266431.4:c.2299= XM_005266431.4:c.2299T>G
ATP7B transcript variant X12 XM_005266431.3:c.2299= XM_005266431.3:c.2299T>G
ATP7B transcript variant X6 XM_005266431.2:c.2299= XM_005266431.2:c.2299T>G
ATP7B transcript variant X9 XM_005266431.1:c.2299= XM_005266431.1:c.2299T>G
ATP7B transcript variant X7 XM_011535117.4:c.2239= XM_011535117.4:c.2239T>G
ATP7B transcript variant X7 XM_011535117.3:c.2239= XM_011535117.3:c.2239T>G
ATP7B transcript variant X6 XM_011535117.2:c.2239= XM_011535117.2:c.2239T>G
ATP7B transcript variant X10 XM_011535117.1:c.2239= XM_011535117.1:c.2239T>G
ATP7B transcript variant X4 XM_006719837.4:c.2239= XM_006719837.4:c.2239T>G
ATP7B transcript variant X5 XM_005266423.3:c.2239= XM_005266423.3:c.2239T>G
ATP7B transcript variant X6 XM_005266423.2:c.2239= XM_005266423.2:c.2239T>G
ATP7B transcript variant X1 XM_005266423.1:c.2239= XM_005266423.1:c.2239T>G
ATP7B transcript variant X6 XM_017020627.2:c.2239= XM_017020627.2:c.2239T>G
ATP7B transcript variant X8 XM_017020627.1:c.2239= XM_017020627.1:c.2239T>G
ATP7B transcript variant X8 XM_047430385.1:c.2335= XM_047430385.1:c.2335T>G
ATP7B transcript variant X9 XM_047430386.1:c.2335= XM_047430386.1:c.2335T>G
ATP7B transcript variant X11 XM_047430388.1:c.2083= XM_047430388.1:c.2083T>G
ATP7B transcript variant X13 XM_047430390.1:c.1003= XM_047430390.1:c.1003T>G
ATP7B transcript variant X14 XM_047430391.1:c.343= XM_047430391.1:c.343T>G
ATP7B transcript variant X15 XM_047430392.1:c.151= XM_047430392.1:c.151T>G
ATP7B transcript variant X16 XM_047430393.1:c.151= XM_047430393.1:c.151T>G
copper-transporting ATPase 2 isoform a NP_000044.2:p.Trp779= NP_000044.2:p.Trp779Gly
copper-transporting ATPase 2 isoform e NP_001317508.1:p.Trp695= NP_001317508.1:p.Trp695Gly
copper-transporting ATPase 2 isoform c NP_001230111.1:p.Trp668= NP_001230111.1:p.Trp668Gly
copper-transporting ATPase 2 isoform X1 XP_005266487.1:p.Trp779= XP_005266487.1:p.Trp779Gly
copper-transporting ATPase 2 isoform X3 XP_005266481.1:p.Trp747= XP_005266481.1:p.Trp747Gly
copper-transporting ATPase 2 isoform X2 XP_005266488.1:p.Trp767= XP_005266488.1:p.Trp767Gly
copper-transporting ATPase 2 isoform X3 XP_011533419.1:p.Trp747= XP_011533419.1:p.Trp747Gly
copper-transporting ATPase 2 isoform X3 XP_006719900.1:p.Trp747= XP_006719900.1:p.Trp747Gly
copper-transporting ATPase 2 isoform X3 XP_005266480.1:p.Trp747= XP_005266480.1:p.Trp747Gly
copper-transporting ATPase 2 isoform X3 XP_016876116.1:p.Trp747= XP_016876116.1:p.Trp747Gly
copper-transporting ATPase 2 isoform X4 XP_047286341.1:p.Trp779= XP_047286341.1:p.Trp779Gly
copper-transporting ATPase 2 isoform X5 XP_047286342.1:p.Trp779= XP_047286342.1:p.Trp779Gly
copper-transporting ATPase 2 isoform X7 XP_047286344.1:p.Trp695= XP_047286344.1:p.Trp695Gly
copper-transporting ATPase 2 isoform X9 XP_047286346.1:p.Trp335= XP_047286346.1:p.Trp335Gly
copper-transporting ATPase 2 isoform X10 XP_047286347.1:p.Trp115= XP_047286347.1:p.Trp115Gly
copper-transporting ATPase 2 isoform X11 XP_047286348.1:p.Trp51= XP_047286348.1:p.Trp51Gly
copper-transporting ATPase 2 isoform X12 XP_047286349.1:p.Trp51= XP_047286349.1:p.Trp51Gly
ATP7B transcript variant 2 NM_001005918.2:c.1870-724= NM_001005918.2:c.1870-724T>G
ATP7B transcript variant 2 NM_001005918.3:c.1870-724= NM_001005918.3:c.1870-724T>G
ATP7B transcript variant 4 NM_001330578.2:c.2122-724= NM_001330578.2:c.2122-724T>G
ATP7B transcript variant X5 XM_005266427.1:c.2122-724= XM_005266427.1:c.2122-724T>G
ATP7B transcript variant X10 XM_005266432.1:c.1870-724= XM_005266432.1:c.1870-724T>G
ATP7B transcript variant X11 XM_005266433.1:c.1286-8170= XM_005266433.1:c.1286-8170T>G
ATP7B transcript variant X10 XM_047430387.1:c.2122-724= XM_047430387.1:c.2122-724T>G
ATP7B transcript variant X12 XM_047430389.1:c.1870-724= XM_047430389.1:c.1870-724T>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#.

7 SubSNP, 4 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1691297003 Apr 01, 2015 (144)
2 GNOMAD ss2740424966 Nov 08, 2017 (151)
3 ILLUMINA ss3021509921 Nov 08, 2017 (151)
4 ILLUMINA ss3651897633 Oct 12, 2018 (152)
5 ILLUMINA ss3725395679 Jul 13, 2019 (153)
6 GNOMAD ss4266031710 Apr 26, 2021 (155)
7 TOPMED ss4946671966 Apr 26, 2021 (155)
8 ExAC NC_000013.10 - 52532467 Oct 12, 2018 (152)
9 gnomAD - Genomes NC_000013.11 - 51958331 Apr 26, 2021 (155)
10 TopMed NC_000013.11 - 51958331 Apr 26, 2021 (155)
11 ALFA NC_000013.11 - 51958331 Apr 26, 2021 (155)
12 ClinVar RCV000673490.2 Oct 16, 2022 (156)
13 ClinVar RCV001091640.7 Oct 16, 2022 (156)
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
1626867, ss1691297003, ss2740424966, ss3021509921, ss3651897633 NC_000013.10:52532466:A:C NC_000013.11:51958330:A:C (self)
RCV000673490.2, RCV001091640.7, 431032117, 162217624, 3717744063, ss3725395679, ss4266031710, ss4946671966 NC_000013.11:51958330:A:C NC_000013.11:51958330:A: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 rs751798708

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