Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs139043155
LDLR
0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05 10
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv 9
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 8
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv 8
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs727502810
RIC3 ; TUB
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 8
rs886039797
BBS2
0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 7
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv 7
rs886039800
BBS4
0.851 0.240 15 72735944 frameshift variant G/- del 6
rs886039802
BBS4
0.851 0.200 15 72712259 stop gained C/T snv 6
rs886039801
BBS9
0.851 0.240 7 33388145 splice donor variant G/A snv 6
rs1553794304
PIGX ; CEP19
0.851 0.160 3 196707860 stop gained -/T delins 6