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rs199422293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422293(C;T)
Make rs199422293(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1293430
GeneTERT
is asnp
is mentioned by
dbSNPrs199422293
dbSNP (classic)rs199422293
ClinGenrs199422293
ebirs199422293
HLIrs199422293
Exacrs199422293
Gnomadrs199422293
Varsomers199422293
LitVarrs199422293
Maprs199422293
PheGenIrs199422293
Biobankrs199422293
1000 genomesrs199422293
hgdprs199422293
ensemblrs199422293
geneviewrs199422293
scholarrs199422293
googlers199422293
pharmgkbrs199422293
gwascentralrs199422293
openSNPrs199422293
23andMers199422293
SNPshotrs199422293
SNPdbers199422293
MSV3drs199422293
GWAS Ctlgrs199422293
Max Magnitude0
ClinVar
Risk rs199422293(T;T)
Alt rs199422293(T;T)
Reference Rs199422293(C;C)
Significance Pathogenic
Disease Idiopathic fibrosing alveolitis
Variation info
Gene TERT
CLNDBN Idiopathic fibrosing alveolitis, chronic form
Reversed 1
HGVS NC_000005.9:g.1293545G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032367.1,