Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373740199
rs373740199
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 CausalMutation CLINVAR Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. 28930861

2017
dbSNP: rs373740199
rs373740199
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 CausalMutation CLINVAR An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 28099038

2017
dbSNP: rs373740199
rs373740199
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 CausalMutation CLINVAR Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 27128385

2016
dbSNP: rs373740199
rs373740199
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 CausalMutation CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068

2013
dbSNP: rs373740199
rs373740199
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 GeneticVariation CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068

2013