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rs121912293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912293(G;G)
Make rs121912293(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765465
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912293
ebirs121912293
HLIrs121912293
Exacrs121912293
Varsomers121912293
Maprs121912293
PheGenIrs121912293
hapmaprs121912293
1000 genomesrs121912293
hgdprs121912293
ensemblrs121912293
gopubmedrs121912293
geneviewrs121912293
scholarrs121912293
googlers121912293
pharmgkbrs121912293
gwascentralrs121912293
openSNPrs121912293
23andMers121912293
23andMe allrs121912293
SNP Nexus

SNPshotrs121912293
SNPdbers121912293
MSV3drs121912293
GWAS Ctlgrs121912293
Max Magnitude0
OMIM300126
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912293(G;G)
Alt rs121912293(G;G)
Reference rs121912293(T;T)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153993740T>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000012338.23,


[PMID 9590285] X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.