Disease: Penis agenesis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs523349
SRD5A2
0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 21
rs9332964
SRD5A2
0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 10
rs1110061
NR5A1
0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10 7
rs121434250
SRD5A2
0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 7
rs2066479
HSD17B3
0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02 7