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rs199422252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422252(A;A)
Make rs199422252(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154774602
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs199422252
ebirs199422252
HLIrs199422252
Exacrs199422252
Varsomers199422252
Maprs199422252
PheGenIrs199422252
hapmaprs199422252
1000 genomesrs199422252
hgdprs199422252
ensemblrs199422252
gopubmedrs199422252
geneviewrs199422252
scholarrs199422252
googlers199422252
pharmgkbrs199422252
gwascentralrs199422252
openSNPrs199422252
23andMers199422252
23andMe allrs199422252
SNP Nexus

SNPshotrs199422252
SNPdbers199422252
MSV3drs199422252
GWAS Ctlgrs199422252
Max Magnitude0
ClinVar
Risk rs199422252(A;A)
Alt rs199422252(A;A)
Reference rs199422252(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene DKC1 SNORA56
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.154002877G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032187.1,