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rs121912292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912292(C;G)
Make rs121912292(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765478
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912292
ebirs121912292
HLIrs121912292
Exacrs121912292
Varsomers121912292
Maprs121912292
PheGenIrs121912292
hapmaprs121912292
1000 genomesrs121912292
hgdprs121912292
ensemblrs121912292
gopubmedrs121912292
geneviewrs121912292
scholarrs121912292
googlers121912292
pharmgkbrs121912292
gwascentralrs121912292
openSNPrs121912292
23andMers121912292
23andMe allrs121912292
SNP Nexus

SNPshotrs121912292
SNPdbers121912292
MSV3drs121912292
GWAS Ctlgrs121912292
Max Magnitude0
OMIM300126
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912292(G;G)
Alt rs121912292(G;G)
Reference rs121912292(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.153993753C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000012340.25,


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