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rs199422254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422254(C;T)
Make rs199422254(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154774669
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs199422254
ebirs199422254
HLIrs199422254
Exacrs199422254
Varsomers199422254
Maprs199422254
PheGenIrs199422254
hapmaprs199422254
1000 genomesrs199422254
hgdprs199422254
ensemblrs199422254
gopubmedrs199422254
geneviewrs199422254
scholarrs199422254
googlers199422254
pharmgkbrs199422254
gwascentralrs199422254
openSNPrs199422254
23andMers199422254
23andMe allrs199422254
SNP Nexus

SNPshotrs199422254
SNPdbers199422254
MSV3drs199422254
GWAS Ctlgrs199422254
Max Magnitude0
ClinVar
Risk rs199422254(T;T)
Alt rs199422254(T;T)
Reference rs199422254(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.154002944C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032192.1,