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rs141425941

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs141425941(C;T)
Make rs141425941(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position1272196
GeneTERT
is asnp
is mentioned by
dbSNPrs141425941
ebirs141425941
HLIrs141425941
Exacrs141425941
Varsomers141425941
Maprs141425941
PheGenIrs141425941
hapmaprs141425941
1000 genomesrs141425941
hgdprs141425941
ensemblrs141425941
gopubmedrs141425941
geneviewrs141425941
scholarrs141425941
googlers141425941
pharmgkbrs141425941
gwascentralrs141425941
openSNPrs141425941
23andMers141425941
23andMe allrs141425941
SNP Nexus

SNPshotrs141425941
SNPdbers141425941
MSV3drs141425941
GWAS Ctlgrs141425941
Max Magnitude0
ClinVar
Risk rs141425941(T;T)
Alt rs141425941(T;T)
Reference rs141425941(C;C)
Significance Pathogenic
Disease Pulmonary fibrosis and/or bone marrow failure Dyskeratosis congenita Idiopathic fibrosing alveolitis
Variation info
Gene TERT
CLNDBN Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form
Reversed 0
HGVS NC_000005.9:g.1272311C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030627.23, RCV000227032.1,