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rs121912290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912290(C;T)
Make rs121912290(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154770792
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912290
ebirs121912290
HLIrs121912290
Exacrs121912290
Varsomers121912290
Maprs121912290
PheGenIrs121912290
hapmaprs121912290
1000 genomesrs121912290
hgdprs121912290
ensemblrs121912290
gopubmedrs121912290
geneviewrs121912290
scholarrs121912290
googlers121912290
pharmgkbrs121912290
gwascentralrs121912290
openSNPrs121912290
23andMers121912290
23andMe allrs121912290
SNP Nexus

SNPshotrs121912290
SNPdbers121912290
MSV3drs121912290
GWAS Ctlgrs121912290
Max Magnitude0
ClinVar
Risk rs121912290(G,T;G,T)
Alt rs121912290(G,T;G,T)
Reference rs121912290(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.153999067C>G; NC_000023.10:g.153999067C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000032207.1, RCV000032208.2,


OMIM305000
Desc
Variant
Relatedalso

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