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rs199422248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422248(A;G)
Make rs199422248(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154770784
GeneDKC1
is asnp
is mentioned by
dbSNPrs199422248
ebirs199422248
HLIrs199422248
Exacrs199422248
Varsomers199422248
Maprs199422248
PheGenIrs199422248
hapmaprs199422248
1000 genomesrs199422248
hgdprs199422248
ensemblrs199422248
gopubmedrs199422248
geneviewrs199422248
scholarrs199422248
googlers199422248
pharmgkbrs199422248
gwascentralrs199422248
openSNPrs199422248
23andMers199422248
23andMe allrs199422248
SNP Nexus

SNPshotrs199422248
SNPdbers199422248
MSV3drs199422248
GWAS Ctlgrs199422248
Max Magnitude0
ClinVar
Risk rs199422248(G;G)
Alt rs199422248(G;G)
Reference rs199422248(A;A)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153999059A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032206.1,