Disease: Hydrometrocolpos
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886039797
BBS2
0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 7
rs886039802
BBS4
0.851 0.200 15 72712259 stop gained C/T snv 6