ALAD, aminolevulinate dehydratase, 210

N. diseases: 135; N. variants: 8
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: rs121912981
rs121912981 		1.000 0.160 9 113389085 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 1 2007 2007
dbSNP: rs121912983
rs121912983 		1.000 0.160 9 113389088 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 5 1991 2007
dbSNP: rs121912980
rs121912980 		1.000 0.160 9 113390798 missense variant C/T snv 1.3E-05 4.9E-05
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs121912982
rs121912982 		1.000 0.160 9 113389521 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1991 2007
dbSNP: rs121912984
rs121912984 		1.000 9 113393524 missense variant G/A;C snv 8.0E-06; 2.8E-05
CUI: C4016013
Disease: PORPHYRIA, ACUTE HEPATIC, DIGENIC
PORPHYRIA, ACUTE HEPATIC, DIGENIC 		0.700 0
dbSNP: rs749066913
rs749066913 		1.000 0.160 9 113391634 intron variant G/A;T snv 4.0E-06
CUI: C0268328
Disease: Porphobilinogen synthase deficiency
Porphobilinogen synthase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1800435
rs1800435 		0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1800435
rs1800435 		0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1800435
rs1800435 		0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1800435
rs1800435 		0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1800435
rs1800435 		0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1800435
rs1800435 		0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02
CUI: C0240602
Disease: opioid use
opioid use 		0.010 1.000 1 2018 2018
dbSNP: rs1800435
rs1800435 		0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2761016
rs2761016 		0.925 0.120 9 113391072 intron variant T/C snv 0.59
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2761016
rs2761016 		0.925 0.120 9 113391072 intron variant T/C snv 0.59
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011