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rs199422302

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199422302(A;G)
Make rs199422302(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1268565
GeneTERT
is asnp
is mentioned by
dbSNPrs199422302
dbSNP (classic)rs199422302
ClinGenrs199422302
ebirs199422302
HLIrs199422302
Exacrs199422302
Gnomadrs199422302
Varsomers199422302
LitVarrs199422302
Maprs199422302
PheGenIrs199422302
Biobankrs199422302
1000 genomesrs199422302
hgdprs199422302
ensemblrs199422302
geneviewrs199422302
scholarrs199422302
googlers199422302
pharmgkbrs199422302
gwascentralrs199422302
openSNPrs199422302
23andMers199422302
SNPshotrs199422302
SNPdbers199422302
MSV3drs199422302
GWAS Ctlgrs199422302
Max Magnitude0
ClinVar
Risk rs199422302(G;G)
Alt rs199422302(G;G)
Reference Rs199422302(A;A)
Significance Pathogenic
Disease Aplastic anemia
Variation info
Gene TERT
CLNDBN Aplastic anemia
Reversed 1
HGVS NC_000005.9:g.1268680T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032384.1,