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rs121912291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912291(A;A)
Make rs121912291(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154770808
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912291
ebirs121912291
HLIrs121912291
Exacrs121912291
Varsomers121912291
Maprs121912291
PheGenIrs121912291
hapmaprs121912291
1000 genomesrs121912291
hgdprs121912291
ensemblrs121912291
gopubmedrs121912291
geneviewrs121912291
scholarrs121912291
googlers121912291
pharmgkbrs121912291
gwascentralrs121912291
openSNPrs121912291
23andMers121912291
23andMe allrs121912291
SNP Nexus

SNPshotrs121912291
SNPdbers121912291
MSV3drs121912291
GWAS Ctlgrs121912291
Max Magnitude0
ClinVar
Risk rs121912291(A;A)
Alt rs121912291(A;A)
Reference rs121912291(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153999083G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000032210.2,


[PMID 19879169] Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.