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rs199422241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422241(C;G)
Make rs199422241(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154762824
GeneDKC1
is asnp
is mentioned by
dbSNPrs199422241
ebirs199422241
HLIrs199422241
Exacrs199422241
Varsomers199422241
Maprs199422241
PheGenIrs199422241
hapmaprs199422241
1000 genomesrs199422241
hgdprs199422241
ensemblrs199422241
gopubmedrs199422241
geneviewrs199422241
scholarrs199422241
googlers199422241
pharmgkbrs199422241
gwascentralrs199422241
openSNPrs199422241
23andMers199422241
23andMe allrs199422241
SNP Nexus

SNPshotrs199422241
SNPdbers199422241
MSV3drs199422241
GWAS Ctlgrs199422241
Max Magnitude0
ClinVar
Risk rs199422241(G;G)
Alt rs199422241(G;G)
Reference rs199422241(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.153991099C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032195.1,