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rs199422290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422290(-;-)
Make rs199422290(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position1294878
GeneTERT
is asnp
is mentioned by
dbSNPrs199422290
dbSNP (classic)rs199422290
ClinGenrs199422290
ebirs199422290
HLIrs199422290
Exacrs199422290
Gnomadrs199422290
Varsomers199422290
LitVarrs199422290
Maprs199422290
PheGenIrs199422290
Biobankrs199422290
1000 genomesrs199422290
hgdprs199422290
ensemblrs199422290
geneviewrs199422290
scholarrs199422290
googlers199422290
pharmgkbrs199422290
gwascentralrs199422290
openSNPrs199422290
23andMers199422290
SNPshotrs199422290
SNPdbers199422290
MSV3drs199422290
GWAS Ctlgrs199422290
Max Magnitude0
ClinVar
Risk rs199422290(-;-)
Alt rs199422290(-;-)
Reference Rs199422290(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.1294993delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032364.1,