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: rs9332967
rs9332967 		0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		0.020 1.000 2 2008 2009
dbSNP: rs1057517828
rs1057517828 		1.000 2 31580801 missense variant C/G;T snv
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		0.010 1.000 1 2003 2003
dbSNP: rs121434245
rs121434245 		0.882 0.200 2 31580737 missense variant A/T snv
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		0.010 1.000 1 2010 2010
dbSNP: rs121434250
rs121434250 		0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04
CUI: C4020961
Disease: Displacement of the external urethral meatus
Displacement of the external urethral meatus 		0.700 0
dbSNP: rs121434249
rs121434249 		0.851 0.280 2 31529323 missense variant C/G;T snv 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs2208532
rs2208532 		0.882 0.080 2 31563919 intron variant G/A snv 0.59
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs676033
rs676033 		0.882 0.080 2 31583901 upstream gene variant T/C snv 0.69
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs523349
rs523349 		0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.050 1.000 5 2005 2017
dbSNP: rs9332967
rs9332967 		0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2017 2019
dbSNP: rs121434250
rs121434250 		0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1393252721
rs1393252721 		0.925 0.120 2 31580686 missense variant G/A;C snv 8.7E-06
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs780523225
rs780523225 		0.882 0.120 2 31529409 missense variant A/G;T snv 8.0E-06 7.0E-06
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9332960
rs9332960 		0.882 0.200 2 31580885 stop gained G/A snv 1.7E-05
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; 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: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121434250
rs121434250 		0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs780523225
rs780523225 		0.882 0.120 2 31529409 missense variant A/G;T snv 8.0E-06 7.0E-06
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9332967
rs9332967 		0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1553329427
rs1553329427 		0.851 0.200 2 31580683 frameshift variant A/- del
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs518600
rs518600 		2 31629385 intergenic variant C/T snv 0.53
CUI: C2697766
Disease: Interleukin 18 Measurement
Interleukin 18 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs523349
rs523349 		0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs121434245
rs121434245 		0.882 0.200 2 31580737 missense variant A/T snv
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs523349
rs523349 		0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2002 2014
dbSNP: rs523349
rs523349 		0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.100 0.690 29 1999 2015