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rs121912302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912302(A;A)
Make rs121912302(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765480
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912302
ebirs121912302
HLIrs121912302
Exacrs121912302
Varsomers121912302
Maprs121912302
PheGenIrs121912302
hapmaprs121912302
1000 genomesrs121912302
hgdprs121912302
ensemblrs121912302
gopubmedrs121912302
geneviewrs121912302
scholarrs121912302
googlers121912302
pharmgkbrs121912302
gwascentralrs121912302
openSNPrs121912302
23andMers121912302
23andMe allrs121912302
SNP Nexus

SNPshotrs121912302
SNPdbers121912302
MSV3drs121912302
GWAS Ctlgrs121912302
Max Magnitude0
ClinVar
Risk rs121912302(A;A)
Alt rs121912302(A;A)
Reference rs121912302(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.153993755G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000032191.2,


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