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rs121912423

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912423(C;T)
Make rs121912423(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position154597125
GeneADAR
is asnp
is mentioned by
dbSNPrs121912423
ebirs121912423
HLIrs121912423
Exacrs121912423
Varsomers121912423
Maprs121912423
PheGenIrs121912423
hapmaprs121912423
1000 genomesrs121912423
hgdprs121912423
ensemblrs121912423
gopubmedrs121912423
geneviewrs121912423
scholarrs121912423
googlers121912423
pharmgkbrs121912423
gwascentralrs121912423
openSNPrs121912423
23andMers121912423
23andMe allrs121912423
SNP Nexus

SNPshotrs121912423
SNPdbers121912423
MSV3drs121912423
GWAS Ctlgrs121912423
Max Magnitude0
OMIM146920
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912423(A,G,T;A,G,T)
Alt rs121912423(A,G,T;A,G,T)
Reference rs121912423(C;C)
Significance Pathogenic
Disease Symmetrical dyschromatosis of extremities
Variation info
Gene ADAR
CLNDBN Symmetrical dyschromatosis of extremities
Reversed 1
HGVS NC_000001.10:g.154569601G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015944.25,