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rs121912296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912296(A;G)
Make rs121912296(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765474
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912296
ebirs121912296
HLIrs121912296
Exacrs121912296
Varsomers121912296
Maprs121912296
PheGenIrs121912296
hapmaprs121912296
1000 genomesrs121912296
hgdprs121912296
ensemblrs121912296
gopubmedrs121912296
geneviewrs121912296
scholarrs121912296
googlers121912296
pharmgkbrs121912296
gwascentralrs121912296
openSNPrs121912296
23andMers121912296
23andMe allrs121912296
SNP Nexus

SNPshotrs121912296
SNPdbers121912296
MSV3drs121912296
GWAS Ctlgrs121912296
Max Magnitude0
ClinVar
Risk rs121912296(G;G)
Alt rs121912296(G;G)
Reference rs121912296(A;A)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153993749A>G
CLNSRC UniProtKB (variants)
CLNACC RCV000032188.2,


[PMID 10364516OA-icon.png] X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.