Gene: TERT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2736100
rs2736100
TERT
0.840 GeneticVariation BEFREE We tested five single-nucleotide polymorphisms [rs35705950, rs868903 in MUC5B, rs2736100, rs2853676 in TERT and rs1881984 in Telomerase RNA Gene (TERC) and TLs in peripheral blood leucocytes, and evaluated their associations with radiographic extent and survival in IPF. 31653936

2019
dbSNP: rs2736100
rs2736100
TERT
0.840 GeneticVariation BEFREE Germline mutations in TERT (rs2736100, n = 33) and CDKN1A (rs2395655, n = 27) associated with idiopathic pulmonary fibrosis risk were detected in most samples. 28862766

2018
dbSNP: rs2736100
rs2736100
TERT
0.840 GeneticVariation BEFREE In contrast, rs2736100 was associated with other ILD (OR, 1.43; 95% CI, 1.11-1.85; P = 6.2 × 10(-3)) but not with IPF (OR, 1.08; 95% CI, 0.78-1.49; P > 0.05). 24434656

2014
dbSNP: rs2736100
rs2736100
TERT
A 0.840 GeneticVariation GWASDB A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. 18835860

2008
dbSNP: rs2736100
rs2736100
TERT
0.840 GeneticVariation BEFREE We further evaluated selected SNPs in a replication sample set (83 cases and 535 controls) and found a significant association of an SNP in intron 2 of the TERT gene (rs2736100), which encodes a reverse transcriptase that is a component of a telomerase, with IPF; a combination of two data sets revealed a p value of 2.9 x 10(-8) (GWA, 2.8 x 10(-6); replication, 3.6 x 10(-3)). 18835860

2008
dbSNP: rs2736100
rs2736100
TERT
A 0.840 GeneticVariation GWASCAT A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. 18835860

2008
dbSNP: rs1060502990
rs1060502990
TERT
CG 0.700 CausalMutation CLINVAR

dbSNP: rs121918666
rs121918666
TERT
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554038257
rs1554038257
TERT
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554042899
rs1554042899
TERT
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554043139
rs1554043139
TERT
T 0.700 CausalMutation CLINVAR

dbSNP: rs199422294
rs199422294
TERT
T 0.700 CausalMutation CLINVAR

dbSNP: rs2853676
rs2853676
TERT
0.010 GeneticVariation BEFREE The minor allele frequencies (MAF) were significantly greater for MUC5B rs868903 (P = 0.042) and TERT rs2853676 (P = 0.041) in IPF than those in healthy controls. 31653936

2019