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rs121912421

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912421(C;T)
Make rs121912421(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position154601222
GeneADAR
is asnp
is mentioned by
dbSNPrs121912421
ebirs121912421
HLIrs121912421
Exacrs121912421
Varsomers121912421
Maprs121912421
PheGenIrs121912421
hapmaprs121912421
1000 genomesrs121912421
hgdprs121912421
ensemblrs121912421
gopubmedrs121912421
geneviewrs121912421
scholarrs121912421
googlers121912421
pharmgkbrs121912421
gwascentralrs121912421
openSNPrs121912421
23andMers121912421
23andMe allrs121912421
SNP Nexus

SNPshotrs121912421
SNPdbers121912421
MSV3drs121912421
GWAS Ctlgrs121912421
Max Magnitude0
OMIM146920
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912421(T;T)
Alt rs121912421(T;T)
Reference rs121912421(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.154573698G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015940.25,