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rs121918666

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918666(A;A)
Make rs121918666(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1266524
GeneTERT
is asnp
is mentioned by
dbSNPrs121918666
ebirs121918666
HLIrs121918666
Exacrs121918666
Varsomers121918666
Maprs121918666
PheGenIrs121918666
hapmaprs121918666
1000 genomesrs121918666
hgdprs121918666
ensemblrs121918666
gopubmedrs121918666
geneviewrs121918666
scholarrs121918666
googlers121918666
pharmgkbrs121918666
gwascentralrs121918666
openSNPrs121918666
23andMers121918666
23andMe allrs121918666
SNP Nexus

SNPshotrs121918666
SNPdbers121918666
MSV3drs121918666
GWAS Ctlgrs121918666
Max Magnitude0
OMIM187270
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918666(A;A)
Alt rs121918666(A;A)
Reference rs121918666(G;G)
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.1266639C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013573.23, RCV000032385.1,