Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 26
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 19
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 18
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 17
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 17
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 17
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17