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rs121912303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912303(C;T)
Make rs121912303(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154762970
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912303
ebirs121912303
HLIrs121912303
Exacrs121912303
Varsomers121912303
Maprs121912303
PheGenIrs121912303
hapmaprs121912303
1000 genomesrs121912303
hgdprs121912303
ensemblrs121912303
gopubmedrs121912303
geneviewrs121912303
scholarrs121912303
googlers121912303
pharmgkbrs121912303
gwascentralrs121912303
openSNPrs121912303
23andMers121912303
23andMe allrs121912303
SNP Nexus

SNPshotrs121912303
SNPdbers121912303
MSV3drs121912303
GWAS Ctlgrs121912303
Max Magnitude0
ClinVar
Risk rs121912303(T;T)
Alt rs121912303(T;T)
Reference rs121912303(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153991245C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000032202.2,


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