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rs111576740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111576740(C;C)
Make rs111576740(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1266537
GeneTERT
is asnp
is mentioned by
dbSNPrs111576740
ebirs111576740
HLIrs111576740
Exacrs111576740
Varsomers111576740
Maprs111576740
PheGenIrs111576740
hapmaprs111576740
1000 genomesrs111576740
hgdprs111576740
ensemblrs111576740
gopubmedrs111576740
geneviewrs111576740
scholarrs111576740
googlers111576740
pharmgkbrs111576740
gwascentralrs111576740
openSNPrs111576740
23andMers111576740
23andMe allrs111576740
SNP Nexus

SNPshotrs111576740
SNPdbers111576740
MSV3drs111576740
GWAS Ctlgrs111576740
Max Magnitude0
ClinVar
Risk rs111576740(C,G;C,G)
Alt rs111576740(C,G;C,G)
Reference rs111576740(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 0
HGVS NC_000005.9:g.1266652T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030625.24, RCV000032386.1,