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

rs199422251

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422251(C;T)
Make rs199422251(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154773245
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs199422251
ebirs199422251
HLIrs199422251
Exacrs199422251
Varsomers199422251
Maprs199422251
PheGenIrs199422251
hapmaprs199422251
1000 genomesrs199422251
hgdprs199422251
ensemblrs199422251
gopubmedrs199422251
geneviewrs199422251
scholarrs199422251
googlers199422251
pharmgkbrs199422251
gwascentralrs199422251
openSNPrs199422251
23andMers199422251
23andMe allrs199422251
SNP Nexus

SNPshotrs199422251
SNPdbers199422251
MSV3drs199422251
GWAS Ctlgrs199422251
Max Magnitude0
ClinVar
Risk rs199422251(T;T)
Alt rs199422251(T;T)
Reference rs199422251(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene SNORA56 DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.154001520C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032186.1,