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rs121912295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912295(A;A)
Make rs121912295(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154774651
GeneDKC1
is asnp
is mentioned by
dbSNPrs121912295
ebirs121912295
HLIrs121912295
Exacrs121912295
Varsomers121912295
Maprs121912295
PheGenIrs121912295
hapmaprs121912295
1000 genomesrs121912295
hgdprs121912295
ensemblrs121912295
gopubmedrs121912295
geneviewrs121912295
scholarrs121912295
googlers121912295
pharmgkbrs121912295
gwascentralrs121912295
openSNPrs121912295
23andMers121912295
23andMe allrs121912295
SNP Nexus

SNPshotrs121912295
SNPdbers121912295
MSV3drs121912295
GWAS Ctlgrs121912295
Max Magnitude0
OMIM300126
Desc
Variant0005
Relatedalso
OMIM305000
Desc
Variant
Relatedalso
ClinVar
Risk rs121912295(A;A)
Alt rs121912295(A;A)
Reference rs121912295(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene SNORA56 DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.154002926G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000012342.23,


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