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rs199422253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422253(C;C)
Make rs199422253(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154774639
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs199422253
ebirs199422253
HLIrs199422253
Exacrs199422253
Varsomers199422253
Maprs199422253
PheGenIrs199422253
hapmaprs199422253
1000 genomesrs199422253
hgdprs199422253
ensemblrs199422253
gopubmedrs199422253
geneviewrs199422253
scholarrs199422253
googlers199422253
pharmgkbrs199422253
gwascentralrs199422253
openSNPrs199422253
23andMers199422253
23andMe allrs199422253
SNP Nexus

SNPshotrs199422253
SNPdbers199422253
MSV3drs199422253
GWAS Ctlgrs199422253
Max Magnitude0
ClinVar
Risk rs199422253(C;C)
Alt rs199422253(C;C)
Reference rs199422253(T;T)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene SNORA56 DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.154002914T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032189.1,