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rs80356754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356754(-;-)
Make rs80356754(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position123737072
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs80356754
ebirs80356754
HLIrs80356754
Exacrs80356754
Varsomers80356754
Maprs80356754
PheGenIrs80356754
hapmaprs80356754
1000 genomesrs80356754
hgdprs80356754
ensemblrs80356754
gopubmedrs80356754
geneviewrs80356754
scholarrs80356754
googlers80356754
pharmgkbrs80356754
gwascentralrs80356754
openSNPrs80356754
23andMers80356754
23andMe allrs80356754
SNP Nexus

SNPshotrs80356754
SNPdbers80356754
MSV3drs80356754
GWAS Ctlgrs80356754
Max Magnitude0
ClinVar
Risk rs80356754(;)
Alt rs80356754(;)
Reference rs80356754(C;C)
Significance Pathogenic
Disease Cutis laxa with osteodystrophy
Variation info
Gene ATP6V0A2
CLNDBN Cutis laxa with osteodystrophy
Reversed 0
HGVS NC_000012.11:g.124221619delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020691.2,


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