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rs374480381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs374480381(A;A)
Make rs374480381(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position123744785
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs374480381
ebirs374480381
HLIrs374480381
Exacrs374480381
Varsomers374480381
Maprs374480381
PheGenIrs374480381
hapmaprs374480381
1000 genomesrs374480381
hgdprs374480381
ensemblrs374480381
gopubmedrs374480381
geneviewrs374480381
scholarrs374480381
googlers374480381
pharmgkbrs374480381
gwascentralrs374480381
openSNPrs374480381
23andMers374480381
23andMe allrs374480381
SNP Nexus

SNPshotrs374480381
SNPdbers374480381
MSV3drs374480381
GWAS Ctlgrs374480381
Max Magnitude0
ClinVar
Risk rs374480381(A;A)
Alt rs374480381(A;A)
Reference rs374480381(G;G)
Significance Pathogenic
Disease not provided Cutis laxa with osteodystrophy
Variation info
Gene ATP6V0A2
CLNDBN not provided Cutis laxa with osteodystrophy
Reversed 0
HGVS NC_000012.11:g.124229332G>A
CLNSRC HGMD
CLNACC RCV000081546.3, RCV000174367.1,