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rs199422307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422307(C;C)
Make rs199422307(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1255401
GeneTERT
is asnp
is mentioned by
dbSNPrs199422307
ebirs199422307
HLIrs199422307
Exacrs199422307
Varsomers199422307
Maprs199422307
PheGenIrs199422307
hapmaprs199422307
1000 genomesrs199422307
hgdprs199422307
ensemblrs199422307
gopubmedrs199422307
geneviewrs199422307
scholarrs199422307
googlers199422307
pharmgkbrs199422307
gwascentralrs199422307
openSNPrs199422307
23andMers199422307
23andMe allrs199422307
SNP Nexus

SNPshotrs199422307
SNPdbers199422307
MSV3drs199422307
GWAS Ctlgrs199422307
Max Magnitude0
ClinVar
Risk rs199422307(C;C)
Alt rs199422307(C;C)
Reference rs199422307(T;T)
Significance Pathogenic
Disease Aplastic anemia
Variation info
Gene TERT
CLNDBN Aplastic anemia
Reversed 1
HGVS NC_000005.9:g.1255516A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032392.1,