HMBS, hydroxymethylbilane synthase, 3145

N. diseases: 140; N. variants: 66
Disease: Acute intermittent porphyria ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057521126
rs1057521126 		1.000 0.160 11 119092785 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1991 2015
dbSNP: rs118204096
rs118204096 		1.000 0.160 11 119091432 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1991 2015
dbSNP: rs118204098
rs118204098 		1.000 0.160 11 119090213 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1991 2015
dbSNP: rs118204099
rs118204099 		1.000 0.160 11 119092486 missense variant T/G snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1991 2015
dbSNP: rs1205219549
rs1205219549 		1.000 0.160 11 119092156 missense variant T/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 20 1991 2015
dbSNP: rs118204100
rs118204100 		1.000 0.160 11 119091507 stop gained G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.720 1.000 2 1994 2000
dbSNP: rs118204107
rs118204107 		1.000 0.160 11 119089747 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 1999 1999
dbSNP: rs1325031228
rs1325031228 		1.000 0.160 11 119092425 stop gained C/T snv 7.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 1995 1995
dbSNP: rs369855221
rs369855221 		1.000 0.160 11 119092797 missense variant A/G snv 5.6E-05
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs974712040
rs974712040 		1.000 0.160 11 119088651 missense variant C/T snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 2000 2000
dbSNP: rs118204097
rs118204097 		1.000 0.160 11 119090230 stop gained C/T snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204103
rs118204103 		1.000 0.160 11 119088298 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204104
rs118204104 		1.000 0.160 11 119088638 missense variant G/A snv 7.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204105
rs118204105 		1.000 0.160 11 119088647 missense variant C/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204106
rs118204106 		1.000 0.160 11 119089084 missense variant G/T snv 7.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204108
rs118204108 		1.000 0.160 11 119091444 missense variant T/G snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204110
rs118204110 		1.000 0.160 11 119092419 stop gained G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204111
rs118204111 		1.000 0.160 11 119092491 missense variant T/C snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204112
rs118204112 		1.000 0.160 11 119092500 missense variant G/A snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204115
rs118204115 		1.000 0.160 11 119092518 missense variant C/A;G snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204116
rs118204116 		1.000 0.160 11 119092159 missense variant G/A;C snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204119
rs118204119 		1.000 0.160 11 119089248 missense variant T/C snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs118204120
rs118204120 		1.000 0.160 11 119090212 stop gained C/T snv
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1334178100
rs1334178100 		1.000 0.160 11 119092768 missense variant G/A snv 7.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555206128
rs1555206128 		1.000 0.160 11 119092417 inframe deletion AGTGCGAGCCAAGGACCAGGACATCTTGGA/- delins
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0