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rs199422244

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422244(C;T)
Make rs199422244(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154765935
GeneDKC1
is asnp
is mentioned by
dbSNPrs199422244
ebirs199422244
HLIrs199422244
Exacrs199422244
Varsomers199422244
Maprs199422244
PheGenIrs199422244
hapmaprs199422244
1000 genomesrs199422244
hgdprs199422244
ensemblrs199422244
gopubmedrs199422244
geneviewrs199422244
scholarrs199422244
googlers199422244
pharmgkbrs199422244
gwascentralrs199422244
openSNPrs199422244
23andMers199422244
23andMe allrs199422244
SNP Nexus

SNPshotrs199422244
SNPdbers199422244
MSV3drs199422244
GWAS Ctlgrs199422244
Max Magnitude0
ClinVar
Risk rs199422244(T;T)
Alt rs199422244(T;T)
Reference rs199422244(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.153994210C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032198.1,