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rs199422303

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422303(C;G)
Make rs199422303(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1266490
GeneTERT
is asnp
is mentioned by
dbSNPrs199422303
dbSNP (classic)rs199422303
ClinGenrs199422303
ebirs199422303
HLIrs199422303
Exacrs199422303
Gnomadrs199422303
Varsomers199422303
LitVarrs199422303
Maprs199422303
PheGenIrs199422303
Biobankrs199422303
1000 genomesrs199422303
hgdprs199422303
ensemblrs199422303
geneviewrs199422303
scholarrs199422303
googlers199422303
pharmgkbrs199422303
gwascentralrs199422303
openSNPrs199422303
23andMers199422303
SNPshotrs199422303
SNPdbers199422303
MSV3drs199422303
GWAS Ctlgrs199422303
Max Magnitude0
ClinVar
Risk rs199422303(G;G)
Alt rs199422303(G;G)
Reference Rs199422303(C;C)
Significance Pathogenic
Disease Aplastic anemia
Variation info
Gene TERT
CLNDBN Aplastic anemia
Reversed 1
HGVS NC_000005.9:g.1266605G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032387.1,