Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912298(A;A)
Make rs121912298(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154773144
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs121912298
ebirs121912298
HLIrs121912298
Exacrs121912298
Varsomers121912298
Maprs121912298
PheGenIrs121912298
hapmaprs121912298
1000 genomesrs121912298
hgdprs121912298
ensemblrs121912298
gopubmedrs121912298
geneviewrs121912298
scholarrs121912298
googlers121912298
pharmgkbrs121912298
gwascentralrs121912298
openSNPrs121912298
23andMers121912298
23andMe allrs121912298
SNP Nexus

SNPshotrs121912298
SNPdbers121912298
MSV3drs121912298
GWAS Ctlgrs121912298
Max Magnitude0
ClinVar
Risk rs121912298(A;A)
Alt rs121912298(A;A)
Reference rs121912298(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.154001419G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000032183.2,


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