SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
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: rs121434244
rs121434244 		1.000 0.200 2 31526225 missense variant G/A snv 2.8E-05
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs267599353
rs267599353 		0.925 0.200 2 31533741 stop gained G/A;T snv 2.2E-05; 9.5E-05
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267599353
rs267599353 		0.925 0.200 2 31533741 stop gained G/A;T snv 2.2E-05; 9.5E-05
CUI: C0432470
Disease: 46, XY female
46, XY female 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs763296857
rs763296857 		0.882 0.200 2 31529427 missense variant T/C snv 1.6E-05 2.8E-05
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs9332964
rs9332964 		0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs523349
rs523349 		0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.710 1.000 2 2007 2017
dbSNP: rs191212334
rs191212334 		1.000 0.080 2 31628285 intergenic variant C/G;T snv 1.3E-04
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 1 2016 2016
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs9332967
rs9332967 		0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs763296857
rs763296857 		0.882 0.200 2 31529427 missense variant T/C snv 1.6E-05 2.8E-05
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs523349
rs523349 		0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.080 0.875 8 2002 2017
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.060 0.667 6 2002 2017
dbSNP: rs12470143
rs12470143 		0.925 0.080 2 31538488 intron variant C/T snv 0.42
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9332964
rs9332964 		0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs523349
rs523349 		0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.500 4 2002 2015
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2002 2014
dbSNP: rs2268797
rs2268797 		2 31558682 intron variant C/T snv 0.51
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2014 2014
dbSNP: rs2300702
rs2300702 		2 31562948 intron variant C/A;G;T snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2014 2014
dbSNP: rs1553329427
rs1553329427 		0.851 0.200 2 31580683 frameshift variant A/- del
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0