Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204094
rs118204094
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		T 0.830 CausalMutation CLINVAR

dbSNP: rs536814318
rs536814318
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		A 0.810 CausalMutation CLINVAR

dbSNP: rs118204095
rs118204095
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		A 0.810 CausalMutation CLINVAR

dbSNP: rs118204095
rs118204095
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		T 0.810 CausalMutation CLINVAR

dbSNP: rs118204109
rs118204109
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.800 GeneticVariation UNIPROT

dbSNP: rs118204099
rs118204099
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		G 0.800 CausalMutation CLINVAR

dbSNP: rs118204098
rs118204098
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		A 0.800 CausalMutation CLINVAR

dbSNP: rs118204096
rs118204096
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		A 0.800 CausalMutation CLINVAR

dbSNP: rs575222284
rs575222284
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.730 GeneticVariation UNIPROT

dbSNP: rs118204117
rs118204117
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		A 0.730 CausalMutation CLINVAR

dbSNP: rs118204101
rs118204101
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		T 0.720 CausalMutation CLINVAR

dbSNP: rs118204100
rs118204100
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		A 0.720 CausalMutation CLINVAR

dbSNP: rs974712040
rs974712040
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.710 GeneticVariation UNIPROT

dbSNP: rs761004837
rs761004837
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.710 GeneticVariation UNIPROT

dbSNP: rs1261947877
rs1261947877
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.710 GeneticVariation UNIPROT

dbSNP: rs118204107
rs118204107
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		A 0.710 CausalMutation CLINVAR

dbSNP: rs990831395
rs990831395
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 GeneticVariation UNIPROT

dbSNP: rs914335144
rs914335144
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 GeneticVariation UNIPROT

dbSNP: rs772471000
rs772471000
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 GeneticVariation UNIPROT

dbSNP: rs34413634
rs34413634
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs189159450
rs189159450
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 GeneticVariation UNIPROT

dbSNP: rs1565758825
rs1565758825
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565758795
rs1565758795
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		CT 0.700 GeneticVariation CLINVAR

dbSNP: rs1565758008
rs1565758008
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1565757857
rs1565757857
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		TCTGCTTCG 0.700 CausalMutation CLINVAR