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: rs523349
rs523349 		0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C4551492
Disease: Micropenis
Micropenis 		0.020 1.000 2 2003 2014
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: rs121434246
rs121434246 		0.925 0.200 2 31533704 missense variant C/T snv 2.3E-05 2.1E-05
CUI: C0555232
Disease: pseudohermaphrodite (non-specific)
pseudohermaphrodite (non-specific) 		0.010 1.000 1 2004 2004
dbSNP: rs121434250
rs121434250 		0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04
CUI: C4551492
Disease: Micropenis
Micropenis 		0.010 1.000 1 2010 2010
dbSNP: rs1311014616
rs1311014616 		0.925 0.040 2 31580733 missense variant C/G snv 8.4E-06
CUI: C4551492
Disease: Micropenis
Micropenis 		0.010 1.000 1 2009 2009
dbSNP: rs2208532
rs2208532 		0.882 0.080 2 31563919 intron variant G/A snv 0.59
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		0.010 1.000 1 2015 2015
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: 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: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		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: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		0.010 1.000 1 2015 2015
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: rs9332964
rs9332964 		0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04
CUI: C4551492
Disease: Micropenis
Micropenis 		0.710 1.000 1 2003 2003
dbSNP: rs104893667
rs104893667 		1.000 2 31580823 stop gained G/A;C snv
CUI: C4551492
Disease: Micropenis
Micropenis 		0.700 0
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: rs1553329427
rs1553329427 		0.851 0.200 2 31580683 frameshift variant A/- del
CUI: C4551492
Disease: Micropenis
Micropenis 		0.700 0
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: 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: rs523349
rs523349 		0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C1691215
Disease: Penile hypospadias
Penile 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: rs9332967
rs9332967 		0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C1691215
Disease: Penile hypospadias
Penile 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