Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 20
rs121918453
PTPN11
0.732 0.280 12 112450394 missense variant G/A;C;T snv 19
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 12
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs1554123982
CAMK2A
0.925 0.040 5 150273157 splice acceptor variant C/- delins 7
rs1556009247
HDAC8
0.882 X 72490973 missense variant A/C;T snv 7
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv 7
rs121918463
PTPN11
0.851 0.240 12 112477651 missense variant T/A;C;G snv 6
rs397507501
PTPN11
0.882 0.160 12 112446385 missense variant A/G snv 5
rs727505381
SOS1
0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06 5