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rs387907251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907251(C;T)
Make rs387907251(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1264479
GeneTERT
is asnp
is mentioned by
dbSNPrs387907251
ebirs387907251
HLIrs387907251
Exacrs387907251
Varsomers387907251
Maprs387907251
PheGenIrs387907251
hapmaprs387907251
1000 genomesrs387907251
hgdprs387907251
ensemblrs387907251
gopubmedrs387907251
geneviewrs387907251
scholarrs387907251
googlers387907251
pharmgkbrs387907251
gwascentralrs387907251
openSNPrs387907251
23andMers387907251
23andMe allrs387907251
SNP Nexus

SNPshotrs387907251
SNPdbers387907251
MSV3drs387907251
GWAS Ctlgrs387907251
Max Magnitude0
ClinVar
Risk rs387907251(T;T)
Alt rs387907251(T;T)
Reference rs387907251(C;C)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure
Variation info
Gene TERT
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
Reversed 1
HGVS NC_000005.9:g.1264594G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030631.24,