Disease: Keratosis Follicularis
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
rs886039797
BBS2
0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 7
rs751375244
TRAPPC3
0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 6