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rs199422250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422250(C;T)
Make rs199422250(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154773244
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs199422250
ebirs199422250
HLIrs199422250
Exacrs199422250
Varsomers199422250
Maprs199422250
PheGenIrs199422250
hapmaprs199422250
1000 genomesrs199422250
hgdprs199422250
ensemblrs199422250
gopubmedrs199422250
geneviewrs199422250
scholarrs199422250
googlers199422250
pharmgkbrs199422250
gwascentralrs199422250
openSNPrs199422250
23andMers199422250
23andMe allrs199422250
SNP Nexus

SNPshotrs199422250
SNPdbers199422250
MSV3drs199422250
GWAS Ctlgrs199422250
Max Magnitude0
ClinVar
Risk rs199422250(T;T)
Alt rs199422250(T;T)
Reference rs199422250(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.154001519C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032185.1,