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rs80356751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356751(A;A)
Make rs80356751(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position123722449
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs80356751
ebirs80356751
HLIrs80356751
Exacrs80356751
Varsomers80356751
Maprs80356751
PheGenIrs80356751
hapmaprs80356751
1000 genomesrs80356751
hgdprs80356751
ensemblrs80356751
gopubmedrs80356751
geneviewrs80356751
scholarrs80356751
googlers80356751
pharmgkbrs80356751
gwascentralrs80356751
openSNPrs80356751
23andMers80356751
23andMe allrs80356751
SNP Nexus

SNPshotrs80356751
SNPdbers80356751
MSV3drs80356751
GWAS Ctlgrs80356751
Max Magnitude0
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.