Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123018
rs398123018
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs786205702
rs786205702
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205702
rs786205702
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C4225346
Disease:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		C 0.800 CausalMutation CLINVAR
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: 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: 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
dbSNP: rs1555813123
rs1555813123
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: rs1555813144
rs1555813144
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: rs1555814044
rs1555814044
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: rs1555814334
rs1555814334
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: rs1555814400
rs1555814400
Entrez Id: 8771;51750;100533107
Gene Symbol: TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
TNFRSF6B;RTEL1;RTEL1-TNFRSF6B
CUI: C0265965
Disease:
Dyskeratosis Congenita 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555899096
rs1555899096
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C0265965
Disease:
Dyskeratosis Congenita 		T 0.700 GeneticVariation CLINVAR