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rs199422247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422247(A;A)
Make rs199422247(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154769306
GeneDKC1
is asnp
is mentioned by
dbSNPrs199422247
ebirs199422247
HLIrs199422247
Exacrs199422247
Varsomers199422247
Maprs199422247
PheGenIrs199422247
hapmaprs199422247
1000 genomesrs199422247
hgdprs199422247
ensemblrs199422247
gopubmedrs199422247
geneviewrs199422247
scholarrs199422247
googlers199422247
pharmgkbrs199422247
gwascentralrs199422247
openSNPrs199422247
23andMers199422247
23andMe allrs199422247
SNP Nexus

SNPshotrs199422247
SNPdbers199422247
MSV3drs199422247
GWAS Ctlgrs199422247
Max Magnitude0
ClinVar
Risk rs199422247(A;A)
Alt rs199422247(A;A)
Reference rs199422247(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.153997581G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032204.1,