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rs80356753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356753(A;G)
Make rs80356753(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position123735529
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs80356753
ebirs80356753
HLIrs80356753
Exacrs80356753
Varsomers80356753
Maprs80356753
PheGenIrs80356753
hapmaprs80356753
1000 genomesrs80356753
hgdprs80356753
ensemblrs80356753
gopubmedrs80356753
geneviewrs80356753
scholarrs80356753
googlers80356753
pharmgkbrs80356753
gwascentralrs80356753
openSNPrs80356753
23andMers80356753
23andMe allrs80356753
SNP Nexus

SNPshotrs80356753
SNPdbers80356753
MSV3drs80356753
GWAS Ctlgrs80356753
Max Magnitude0
ClinVar
Risk rs80356753(G;G)
Alt rs80356753(G;G)
Reference rs80356753(A;A)
Significance Pathogenic
Disease Cutis laxa with osteodystrophy
Variation info
Gene ATP6V0A2
CLNDBN Cutis laxa with osteodystrophy
Reversed 0
HGVS NC_000012.11:g.124220076A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020690.2,


[PMID 18157129] Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.