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rs149566858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs149566858(A;A)
Make rs149566858(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1278750
GeneTERT
is asnp
is mentioned by
dbSNPrs149566858
dbSNP (classic)rs149566858
ClinGenrs149566858
ebirs149566858
HLIrs149566858
Exacrs149566858
Gnomadrs149566858
Varsomers149566858
LitVarrs149566858
Maprs149566858
PheGenIrs149566858
Biobankrs149566858
1000 genomesrs149566858
hgdprs149566858
ensemblrs149566858
geneviewrs149566858
scholarrs149566858
googlers149566858
pharmgkbrs149566858
gwascentralrs149566858
openSNPrs149566858
23andMers149566858
SNPshotrs149566858
SNPdbers149566858
MSV3drs149566858
GWAS Ctlgrs149566858
Max Magnitude0
ClinVar
Risk rs149566858(A;A)
Alt rs149566858(A;A)
Reference Rs149566858(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita autosomal dominant Dyskeratosis congenita Idiopathic fibrosing alveolitis
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita autosomal dominant Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form
Reversed 0
HGVS NC_000005.9:g.1278865G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000032378.1, RCV000458797.1,