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rs34094720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34094720(C;T)
Make rs34094720(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position1293652
GeneTERT
is asnp
is mentioned by
dbSNPrs34094720
ebirs34094720
HLIrs34094720
Exacrs34094720
Varsomers34094720
Maprs34094720
PheGenIrs34094720
hapmaprs34094720
1000 genomesrs34094720
hgdprs34094720
ensemblrs34094720
gopubmedrs34094720
geneviewrs34094720
scholarrs34094720
googlers34094720
pharmgkbrs34094720
gwascentralrs34094720
openSNPrs34094720
23andMers34094720
23andMe allrs34094720
SNP Nexus

SNPshotrs34094720
SNPdbers34094720
MSV3drs34094720
GWAS Ctlgrs34094720
GMAF0.001377
Max Magnitude0
OMIM187270
Desc
Variant0002
Relatedalso


ClinVar
Risk rs34094720(T;T)
Alt rs34094720(T;T)
Reference rs34094720(C;C)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Aplastic anemia Dyskeratosis congenita not specified Dyskeratosis congenita Idiopathic fibrosing alveolitis
Variation info
Gene TERT
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal recessive, 4 not specified Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form
Reversed 1
HGVS NC_000005.9:g.1293767G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013567.22, RCV000032365.1, RCV000190902.2, RCV000218461.1, RCV000234686.1,