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rs121912301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912301(C;C)
Make rs121912301(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765929
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912301
ebirs121912301
HLIrs121912301
Exacrs121912301
Varsomers121912301
Maprs121912301
PheGenIrs121912301
hapmaprs121912301
1000 genomesrs121912301
hgdprs121912301
ensemblrs121912301
gopubmedrs121912301
geneviewrs121912301
scholarrs121912301
googlers121912301
pharmgkbrs121912301
gwascentralrs121912301
openSNPrs121912301
23andMers121912301
23andMe allrs121912301
SNP Nexus

SNPshotrs121912301
SNPdbers121912301
MSV3drs121912301
GWAS Ctlgrs121912301
Max Magnitude0
ClinVar
Risk rs121912301(C;C)
Alt rs121912301(C;C)
Reference rs121912301(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.153994204G>C
CLNSRC UniProtKB (variants)
CLNACC RCV000032196.2,


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