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rs80356756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356756(-;-)
Make rs80356756(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position123748779
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs80356756
ebirs80356756
HLIrs80356756
Exacrs80356756
Varsomers80356756
Maprs80356756
PheGenIrs80356756
hapmaprs80356756
1000 genomesrs80356756
hgdprs80356756
ensemblrs80356756
gopubmedrs80356756
geneviewrs80356756
scholarrs80356756
googlers80356756
pharmgkbrs80356756
gwascentralrs80356756
openSNPrs80356756
23andMers80356756
23andMe allrs80356756
SNP Nexus

SNPshotrs80356756
SNPdbers80356756
MSV3drs80356756
GWAS Ctlgrs80356756
Max Magnitude0
ClinVar
Risk rs80356756(;)
Alt rs80356756(;)
Reference rs80356756(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.124233326delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020684.2,


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