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rs199422296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422296(G;T)
Make rs199422296(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1279392
GeneTERT
is asnp
is mentioned by
dbSNPrs199422296
ebirs199422296
HLIrs199422296
Exacrs199422296
Varsomers199422296
Maprs199422296
PheGenIrs199422296
hapmaprs199422296
1000 genomesrs199422296
hgdprs199422296
ensemblrs199422296
gopubmedrs199422296
geneviewrs199422296
scholarrs199422296
googlers199422296
pharmgkbrs199422296
gwascentralrs199422296
openSNPrs199422296
23andMers199422296
23andMe allrs199422296
SNP Nexus

SNPshotrs199422296
SNPdbers199422296
MSV3drs199422296
GWAS Ctlgrs199422296
Max Magnitude0
ClinVar
Risk rs199422296(T;T)
Alt rs199422296(T;T)
Reference rs199422296(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000005.9:g.1279507C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032371.1,