Disease: Bardet-Biedl Syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 22
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs74315396
MKKS
0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04 5
rs606231137
BBS9
0.882 0.120 7 33383752 frameshift variant AACA/- delins 3
rs727503818
BBS10
0.882 0.120 12 76346894 frameshift variant T/- delins 6.8E-05 4.9E-05 3
rs1057516533
ZDHHC24 ; BBS1
0.925 0.120 11 66523842 frameshift variant T/- delins 2
rs1057517332
BBS1 ; ZDHHC24
0.925 0.120 11 66523454 splice acceptor variant A/G snv 4.0E-06 2
rs1060503690
ZDHHC24 ; BBS1
0.925 0.120 11 66526708 stop gained G/T snv 2
rs113994179
ZDHHC24 ; BBS1
0.925 0.120 11 66523453 splice region variant C/G;T snv 4.0E-06; 4.0E-06 2
rs1166022838
BBS1
0.925 0.120 11 66510675 frameshift variant -/C delins 4.0E-06 2
rs121917777
ZDHHC24 ; BBS1
0.925 0.120 11 66531692 stop gained G/A;T snv 4.0E-06; 1.6E-05 2
rs587777829
BBS1
0.925 0.120 11 66514679 splice donor variant G/A snv 2
rs587777830
ZDHHC24 ; BBS1
0.925 0.120 11 66523476 frameshift variant A/- del 2
rs746875134
ZDHHC24 ; BBS1
0.925 0.120 11 66523577 splice donor variant G/A;C snv 8.0E-06; 4.0E-06 2
rs768443448
BBS1 ; ZDHHC24
0.925 0.120 11 66526753 stop gained C/G;T snv 4.0E-06; 1.2E-05 2