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rs387907247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907247(A;A)
Make rs387907247(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1294826
GeneTERT
is asnp
is mentioned by
dbSNPrs387907247
ebirs387907247
HLIrs387907247
Exacrs387907247
Varsomers387907247
Maprs387907247
PheGenIrs387907247
hapmaprs387907247
1000 genomesrs387907247
hgdprs387907247
ensemblrs387907247
gopubmedrs387907247
geneviewrs387907247
scholarrs387907247
googlers387907247
pharmgkbrs387907247
gwascentralrs387907247
openSNPrs387907247
23andMers387907247
23andMe allrs387907247
SNP Nexus

SNPshotrs387907247
SNPdbers387907247
MSV3drs387907247
GWAS Ctlgrs387907247
Max Magnitude0
ClinVar
Risk rs387907247(A;A)
Alt rs387907247(A;A)
Reference rs387907247(T;T)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Idiopathic fibrosing alveolitis
Variation info
Gene TERT
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Idiopathic fibrosing alveolitis, chronic form
Reversed 1
HGVS NC_000005.9:g.1294941A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030626.25, RCV000032368.1,