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rs199422245

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422245(A;A)
Make rs199422245(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765939
GeneDKC1
is asnp
is mentioned by
dbSNPrs199422245
ebirs199422245
HLIrs199422245
Exacrs199422245
Varsomers199422245
Maprs199422245
PheGenIrs199422245
hapmaprs199422245
1000 genomesrs199422245
hgdprs199422245
ensemblrs199422245
gopubmedrs199422245
geneviewrs199422245
scholarrs199422245
googlers199422245
pharmgkbrs199422245
gwascentralrs199422245
openSNPrs199422245
23andMers199422245
23andMe allrs199422245
SNP Nexus

SNPshotrs199422245
SNPdbers199422245
MSV3drs199422245
GWAS Ctlgrs199422245
Max Magnitude0
ClinVar
Risk rs199422245(A;A)
Alt rs199422245(A;A)
Reference rs199422245(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153994214C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032199.1,