SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
Disease: Micropenis ×
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: 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: 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: C4551492
Disease: Micropenis
Micropenis 		0.020 1.000 2 2003 2014
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