rs80356751
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80356751(A;A) |
Make rs80356751(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 123722449 |
Gene | ATP6V0A2, LOC105370042 |
is a | snp |
is | mentioned by |
dbSNP | rs80356751 |
dbSNP (classic) | rs80356751 |
ClinGen | rs80356751 |
ebi | rs80356751 |
HLI | rs80356751 |
Exac | rs80356751 |
Gnomad | rs80356751 |
Varsome | rs80356751 |
LitVar | rs80356751 |
Map | rs80356751 |
PheGenI | rs80356751 |
Biobank | rs80356751 |
1000 genomes | rs80356751 |
hgdp | rs80356751 |
ensembl | rs80356751 |
geneview | rs80356751 |
scholar | rs80356751 |
rs80356751 | |
pharmgkb | rs80356751 |
gwascentral | rs80356751 |
openSNP | rs80356751 |
23andMe | rs80356751 |
SNPshot | rs80356751 |
SNPdbe | rs80356751 |
MSV3d | rs80356751 |
GWAS Ctlg | rs80356751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356751(A;A) |
Alt | rs80356751(A;A) |
Reference | Rs80356751(G;G) |
Significance | Pathogenic |
Disease | Cutis laxa with osteodystrophy |
Variation | info |
Gene | ATP6V0A2 |
CLNDBN | Cutis laxa with osteodystrophy |
Reversed | 0 |
HGVS | NC_000012.11:g.124206996G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020688.2, |
[PMID 18157129] Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.