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rs199422242

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422242(C;T)
Make rs199422242(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154764911
GeneDKC1
is asnp
is mentioned by
dbSNPrs199422242
ebirs199422242
HLIrs199422242
Exacrs199422242
Varsomers199422242
Maprs199422242
PheGenIrs199422242
hapmaprs199422242
1000 genomesrs199422242
hgdprs199422242
ensemblrs199422242
gopubmedrs199422242
geneviewrs199422242
scholarrs199422242
googlers199422242
pharmgkbrs199422242
gwascentralrs199422242
openSNPrs199422242
23andMers199422242
23andMe allrs199422242
SNP Nexus

SNPshotrs199422242
SNPdbers199422242
MSV3drs199422242
GWAS Ctlgrs199422242
Max Magnitude0
ClinVar
Risk rs199422242(T;T)
Alt rs199422242(T;T)
Reference rs199422242(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.153993186C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032200.1,