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rs398124257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398124257(C;C)
Make rs398124257(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position123735626
GeneATP6V0A2
is asnp
is mentioned by
dbSNPrs398124257
ebirs398124257
HLIrs398124257
Exacrs398124257
Varsomers398124257
Maprs398124257
PheGenIrs398124257
hapmaprs398124257
1000 genomesrs398124257
hgdprs398124257
ensemblrs398124257
gopubmedrs398124257
geneviewrs398124257
scholarrs398124257
googlers398124257
pharmgkbrs398124257
gwascentralrs398124257
openSNPrs398124257
23andMers398124257
23andMe allrs398124257
SNP Nexus

SNPshotrs398124257
SNPdbers398124257
MSV3drs398124257
GWAS Ctlgrs398124257
Max Magnitude0
ClinVar
Risk rs398124257(C;C)
Alt rs398124257(C;C)
Reference rs398124257(T;T)
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.124220173T>C
CLNSRC ClinVar
CLNACC RCV000081554.3, RCV000180309.1,