SRD5A1, steroid 5 alpha-reductase 1, 6715

N. diseases: 48; N. variants: 7
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: rs248793
rs248793 		1.000 0.080 5 6633666 synonymous variant C/G snv 0.55 0.58
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2011 2014
dbSNP: rs3797179
rs3797179 		1.000 0.120 5 6666809 intron variant G/A snv 0.12
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2011 2013
dbSNP: rs472402
rs472402 		0.925 0.080 5 6635478 intron variant G/C snv 0.53
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2016 2019
dbSNP: rs472402
rs472402 		0.925 0.080 5 6635478 intron variant G/C snv 0.53
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2016 2019
dbSNP: rs3736316
rs3736316 		0.925 0.080 5 6656097 missense variant G/A snv 0.33 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3736316
rs3736316 		0.925 0.080 5 6656097 missense variant G/A snv 0.33 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3797177
rs3797177 		1.000 0.040 5 6666971 intron variant T/A;C snv
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3822430
rs3822430 		0.925 0.080 5 6651857 synonymous variant A/G snv 0.33 0.35
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3822430
rs3822430 		0.925 0.080 5 6651857 synonymous variant A/G snv 0.33 0.35
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6884552
rs6884552 		1.000 0.040 5 6661853 intron variant C/T snv 0.32
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2017 2017