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rs794727643

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727643(C;T)
Make rs794727643(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position123724663
GeneATP6V0A2, LOC105370042
is asnp
is mentioned by
dbSNPrs794727643
ebirs794727643
HLIrs794727643
Exacrs794727643
Varsomers794727643
Maprs794727643
PheGenIrs794727643
hapmaprs794727643
1000 genomesrs794727643
hgdprs794727643
ensemblrs794727643
gopubmedrs794727643
geneviewrs794727643
scholarrs794727643
googlers794727643
pharmgkbrs794727643
gwascentralrs794727643
openSNPrs794727643
23andMers794727643
23andMe allrs794727643
SNP Nexus

SNPshotrs794727643
SNPdbers794727643
MSV3drs794727643
GWAS Ctlgrs794727643
Max Magnitude0
ClinVar
Risk rs794727643(T;T)
Alt rs794727643(T;T)
Reference rs794727643(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.124209210C>T
CLNSRC
CLNACC RCV000178289.1,