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rs199422298

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422298(C;T)
Make rs199422298(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1278780
GeneTERT
is asnp
is mentioned by
dbSNPrs199422298
dbSNP (classic)rs199422298
ClinGenrs199422298
ebirs199422298
HLIrs199422298
Exacrs199422298
Gnomadrs199422298
Varsomers199422298
LitVarrs199422298
Maprs199422298
PheGenIrs199422298
Biobankrs199422298
1000 genomesrs199422298
hgdprs199422298
ensemblrs199422298
geneviewrs199422298
scholarrs199422298
googlers199422298
pharmgkbrs199422298
gwascentralrs199422298
openSNPrs199422298
23andMers199422298
SNPshotrs199422298
SNPdbers199422298
MSV3drs199422298
GWAS Ctlgrs199422298
Max Magnitude0
ClinVar
Risk rs199422298(T;T)
Alt rs199422298(T;T)
Reference Rs199422298(C;C)
Significance Pathogenic
Disease Aplastic anemia
Variation info
Gene TERT
CLNDBN Aplastic anemia
Reversed 1
HGVS NC_000005.9:g.1278895G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032376.1,