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rs121912294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs121912294(CT;TA)
Make rs121912294(TA;TA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765949
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912294
ebirs121912294
HLIrs121912294
Exacrs121912294
Varsomers121912294
Maprs121912294
PheGenIrs121912294
hapmaprs121912294
1000 genomesrs121912294
hgdprs121912294
ensemblrs121912294
gopubmedrs121912294
geneviewrs121912294
scholarrs121912294
googlers121912294
pharmgkbrs121912294
gwascentralrs121912294
openSNPrs121912294
23andMers121912294
23andMe allrs121912294
SNP Nexus

SNPshotrs121912294
SNPdbers121912294
MSV3drs121912294
GWAS Ctlgrs121912294
Max Magnitude0
OMIM300126
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912294(TA;TA)
Alt rs121912294(TA;TA)
Reference rs121912294(CT;CT)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153994224_153994225delCTinsTA
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000012341.23,


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