Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1313207845
rs1313207845
Entrez Id: 5994
Gene Symbol: RFXAP
RFXAP
CUI: C2931418
Disease:
Bare lymphocyte syndrome 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137853098
rs137853098
Entrez Id: 5994
Gene Symbol: RFXAP
RFXAP
CUI: C1859537
Disease:
Bare Lymphocyte Syndrome, Type II, Complementation Group D 		T 0.700 CausalMutation CLINVAR
dbSNP: rs754240018
rs754240018
Entrez Id: 5994
Gene Symbol: RFXAP
RFXAP
CUI: C1859537
Disease:
Bare Lymphocyte Syndrome, Type II, Complementation Group D 		A 0.700 CausalMutation CLINVAR