AMACR, alpha-methylacyl-CoA racemase, 23600

N. diseases: 179; N. variants: 9
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: rs121917814
rs121917814 		0.925 0.160 5 34007866 missense variant A/G snv 3.4E-04 4.8E-04
CUI: C3280428
Disease: Alpha-Methylacyl-CoA Racemase Deficiency
Alpha-Methylacyl-CoA Racemase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 6 2000 2011
dbSNP: rs121917814
rs121917814 		0.925 0.160 5 34007866 missense variant A/G snv 3.4E-04 4.8E-04
CUI: C1858328
Disease: Bile acid synthesis defect, congenital, 4
Bile acid synthesis defect, congenital, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 2 2000 2003
dbSNP: rs121917816
rs121917816 		1.000 0.120 5 34005827 missense variant A/G snv 4.0E-06
CUI: C1858328
Disease: Bile acid synthesis defect, congenital, 4
Bile acid synthesis defect, congenital, 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 2 2000 2003
dbSNP: rs13289
rs13289 		5 33986304 3 prime UTR variant C/G;T snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs10941112
rs10941112 		0.882 0.120 5 34004602 missense variant C/T snv 0.42 0.38
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.050 0.800 5 2002 2015
dbSNP: rs10941112
rs10941112 		0.882 0.120 5 34004602 missense variant C/T snv 0.42 0.38
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.050 0.800 5 2002 2015
dbSNP: rs2278008
rs2278008 		0.851 0.160 5 33989413 missense variant C/T snv 0.70 0.74
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.030 0.333 3 2007 2015
dbSNP: rs2278008
rs2278008 		0.851 0.160 5 33989413 missense variant C/T snv 0.70 0.74
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.030 0.333 3 2007 2015
dbSNP: rs10941112
rs10941112 		0.882 0.120 5 34004602 missense variant C/T snv 0.42 0.38
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2010 2017
dbSNP: rs2287939
rs2287939 		0.851 0.160 5 33998778 missense variant A/C;G snv 1.6E-05; 0.70
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2011 2015
dbSNP: rs2287939
rs2287939 		0.851 0.160 5 33998778 missense variant A/C;G snv 1.6E-05; 0.70
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2011 2015
dbSNP: rs3195676
rs3195676 		0.925 0.080 5 34007995 missense variant C/T snv 0.42 0.41
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2007 2013
dbSNP: rs3195676
rs3195676 		0.925 0.080 5 34007995 missense variant C/T snv 0.42 0.41
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2007 2013
dbSNP: rs10941112
rs10941112 		0.882 0.120 5 34004602 missense variant C/T snv 0.42 0.38
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs200599829
rs200599829 		1.000 0.200 5 34004665 missense variant G/C snv 8.0E-06
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2278008
rs2278008 		0.851 0.160 5 33989413 missense variant C/T snv 0.70 0.74
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs2278008
rs2278008 		0.851 0.160 5 33989413 missense variant C/T snv 0.70 0.74
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs2287939
rs2287939 		0.851 0.160 5 33998778 missense variant A/C;G snv 1.6E-05; 0.70
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs2287939
rs2287939 		0.851 0.160 5 33998778 missense variant A/C;G snv 1.6E-05; 0.70
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs34677
rs34677 		0.925 0.080 5 33998663 missense variant C/A snv 0.13 0.11
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs34677
rs34677 		0.925 0.080 5 33998663 missense variant C/A snv 0.13 0.11
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2015 2015