Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373740199
rs373740199
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3808802
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
T 0.700 CausalMutation CLINVAR
dbSNP: rs398123052
rs398123052
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3808802
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
A 0.700 CausalMutation CLINVAR