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rs80356758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356758(C;T)
Make rs80356758(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position123754537
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs80356758
ebirs80356758
HLIrs80356758
Exacrs80356758
Varsomers80356758
Maprs80356758
PheGenIrs80356758
hapmaprs80356758
1000 genomesrs80356758
hgdprs80356758
ensemblrs80356758
gopubmedrs80356758
geneviewrs80356758
scholarrs80356758
googlers80356758
pharmgkbrs80356758
gwascentralrs80356758
openSNPrs80356758
23andMers80356758
23andMe allrs80356758
SNP Nexus

SNPshotrs80356758
SNPdbers80356758
MSV3drs80356758
GWAS Ctlgrs80356758
Max Magnitude0
OMIM611716
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356758(T;T)
Alt rs80356758(T;T)
Reference rs80356758(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.124239084C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000887.3,


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