Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs115303435
rs115303435
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C0017638
Disease:
Glioma 		0.010 GeneticVariation BEFREE The glioma subgroup analyses showed that the causal variants (rs6062302 and rs115303435) may be associated with increased risk of glioma</span> regardless of histological grades and molecular alterations. 30462709 2018
dbSNP: rs1161373315
rs1161373315
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1177091623
rs1177091623
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 GeneticVariation UNIPROT
dbSNP: rs1263776141
rs1263776141
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		TG 0.700 GeneticVariation CLINVAR
dbSNP: rs1415449695
rs1415449695
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1421904176
rs1421904176
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1449687529
rs1449687529
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1449687529
rs1449687529
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1449687529
rs1449687529
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C0265965
Disease:
Dyskeratosis Congenita 		G 0.700 GeneticVariation CLINVAR Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
dbSNP: rs146221660
rs146221660
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs146221660
rs146221660
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C1800706
Disease:
Idiopathic Pulmonary Fibrosis 		A 0.700 CausalMutation CLINVAR Rare variants in RTEL1 are associated with familial interstitial pneumonia. 25607374 2015
dbSNP: rs1470145133
rs1470145133
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 24009516 2013
dbSNP: rs1470145133
rs1470145133
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
dbSNP: rs1470145133
rs1470145133
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. 23591994 2013
dbSNP: rs1470145133
rs1470145133
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
dbSNP: rs1470145133
rs1470145133
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013
dbSNP: rs151214675
rs151214675
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C0242383
Disease:
Age related macular degeneration 		0.010 GeneticVariation BEFREE After correcting for multiple testing (n = 37,428), we identified four variants significantly associated with AMD: rs200437673 (LCN9, p = 1.50 × 10<sup>-11</sup>), rs151214675 (RTEL1, p = 3.18 × 10<sup>-8</sup>), rs140250387 (DLGAP1, p = 4.49 × 10<sup>-7</sup>), and rs115333865 (CGRRF1, p = 1.05 × 10<sup>-6</sup>). 31367973 2019
dbSNP: rs1555811386
rs1555811386
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555811742
rs1555811742
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		AC 0.700 GeneticVariation CLINVAR
dbSNP: rs1555811762
rs1555811762
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555811966
rs1555811966
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555812178
rs1555812178
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555812228
rs1555812228
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555812480
rs1555812480
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555812834
rs1555812834
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		C 0.700 GeneticVariation CLINVAR