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rs80356755

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356755(G;T)
Make rs80356755(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position123744335
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs80356755
ebirs80356755
HLIrs80356755
Exacrs80356755
Varsomers80356755
Maprs80356755
PheGenIrs80356755
hapmaprs80356755
1000 genomesrs80356755
hgdprs80356755
ensemblrs80356755
gopubmedrs80356755
geneviewrs80356755
scholarrs80356755
googlers80356755
pharmgkbrs80356755
gwascentralrs80356755
openSNPrs80356755
23andMers80356755
23andMe allrs80356755
SNP Nexus

SNPshotrs80356755
SNPdbers80356755
MSV3drs80356755
GWAS Ctlgrs80356755
Max Magnitude0
ClinVar
Risk rs80356755(T;T)
Alt rs80356755(T;T)
Reference rs80356755(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.124228882G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020683.2,


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