Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893678
ARL6
0.925 0.120 3 97788004 stop gained C/T snv 8.0E-06 2
rs1054138918
BBS5
0.925 0.120 2 169487068 splice acceptor variant G/C snv 4.0E-05 2
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
rs1060500996
BBS10
1.000 0.120 12 76347724 frameshift variant ATAAA/- delins 1
rs1060503690
ZDHHC24 ; BBS1
0.925 0.120 11 66526708 stop gained G/T snv 2
rs1060503692
BBS4
1.000 0.120 15 72727990 stop gained T/A snv 1
rs1064796315
BBS10
0.925 0.120 12 76345955 frameshift variant C/- delins 2.8E-05 2
rs111033570
ASTN2 ; TRIM32
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 4
rs111033571
ASTN2 ; TRIM32
0.925 0.120 9 116698130 missense variant C/T snv 8.0E-06 1.4E-05 2
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 22
rs113994178
BBS1
1.000 0.120 11 66510646 start lost AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG/- delins 1
rs113994179
ZDHHC24 ; BBS1
0.925 0.120 11 66523453 splice region variant C/G;T snv 4.0E-06; 4.0E-06 2
rs113994180
ZDHHC24 ; BBS1
1.000 0.120 11 66529817 splice acceptor variant A/G snv 1
rs113994189
BBS4
0.925 0.120 15 72709480 intron variant A/- delins 2
rs113994190
BBS4
1.000 0.120 15 72712308 splice donor variant G/A;C snv 4.0E-06 1
rs113994191
BBS4
0.925 0.120 15 72722792 splice acceptor variant A/C;G snv 2
rs113994192
BBS4
0.925 0.120 15 72712242 splice acceptor variant A/G snv 4.0E-06 2
rs113994195
MKKS
1.000 0.120 20 10413074 frameshift variant ACTACTAAAGT/- delins 1
rs113994196
MKKS
1.000 0.120 20 10412638 frameshift variant -/CAGG delins 1
rs1156913215
BBS10
0.925 0.120 12 76347219 stop gained G/A;C snv 2
rs1160669210
BBS1 ; ZDHHC24
1.000 0.120 11 66526189 stop gained C/T snv 7.0E-06 1
rs1166022838
BBS1
0.925 0.120 11 66510675 frameshift variant -/C delins 4.0E-06 2
rs119103286
TTC8
0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 5
rs119466002
BBS7
0.882 0.120 4 121854790 missense variant G/A snv 8.0E-06 6.3E-05 3