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rs199422249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422249(A;A)
Make rs199422249(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154773169
GeneDKC1, SNORA56
is asnp
is mentioned by
dbSNPrs199422249
ebirs199422249
HLIrs199422249
Exacrs199422249
Varsomers199422249
Maprs199422249
PheGenIrs199422249
hapmaprs199422249
1000 genomesrs199422249
hgdprs199422249
ensemblrs199422249
gopubmedrs199422249
geneviewrs199422249
scholarrs199422249
googlers199422249
pharmgkbrs199422249
gwascentralrs199422249
openSNPrs199422249
23andMers199422249
23andMe allrs199422249
SNP Nexus

SNPshotrs199422249
SNPdbers199422249
MSV3drs199422249
GWAS Ctlgrs199422249
Max Magnitude0
ClinVar
Risk rs199422249(A;A)
Alt rs199422249(A;A)
Reference rs199422249(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita X-linked
Variation info
Gene SNORA56 DKC1
CLNDBN Dyskeratosis congenita X-linked
Reversed 0
HGVS NC_000023.10:g.154001444G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032184.1,