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rs35719940

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs35719940(A;A)
Make rs35719940(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1254479
GeneTERT
is asnp
is mentioned by
dbSNPrs35719940
ebirs35719940
HLIrs35719940
Exacrs35719940
Varsomers35719940
Maprs35719940
PheGenIrs35719940
hapmaprs35719940
1000 genomesrs35719940
hgdprs35719940
ensemblrs35719940
gopubmedrs35719940
geneviewrs35719940
scholarrs35719940
googlers35719940
pharmgkbrs35719940
gwascentralrs35719940
openSNPrs35719940
23andMers35719940
23andMe allrs35719940
SNP Nexus

SNPshotrs35719940
SNPdbers35719940
MSV3drs35719940
GWAS Ctlgrs35719940
GMAF0.009183
Max Magnitude0
ClinVar
Risk rs35719940(A;A)
Alt rs35719940(A;A)
Reference rs35719940(G;G)
Significance Other
Disease Leukemia Aplastic anemia not specified Dyskeratosis congenita Idiopathic fibrosing alveolitis
Variation info
Gene TERT
CLNDBN Leukemia, acute myeloid, susceptibility to Aplastic anemia not specified Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form
Reversed 1
HGVS NC_000005.9:g.1254594C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030632.2, RCV000032393.1, RCV000151992.2, RCV000232252.1,


GET Evidence
TERT-A1062T
aa_change Ala1062Thr
aa_change_short A1062T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0160511
summary