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rs121912289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912289(C;T)
Make rs121912289(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154774672
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs121912289
ebirs121912289
HLIrs121912289
Exacrs121912289
Varsomers121912289
Maprs121912289
PheGenIrs121912289
hapmaprs121912289
1000 genomesrs121912289
hgdprs121912289
ensemblrs121912289
gopubmedrs121912289
geneviewrs121912289
scholarrs121912289
googlers121912289
pharmgkbrs121912289
gwascentralrs121912289
openSNPrs121912289
23andMers121912289
23andMe allrs121912289
SNP Nexus

SNPshotrs121912289
SNPdbers121912289
MSV3drs121912289
GWAS Ctlgrs121912289
Max Magnitude0
ClinVar
Risk rs121912289(T;T)
Alt rs121912289(T;T)
Reference rs121912289(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene SNORA56 DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.154002947C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000032193.2,


[PMID 15304085] Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.