Disease: Diastrophic dysplasia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv 7