Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
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
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 13
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs397507506
PTPN11
0.807 0.240 12 112450354 missense variant C/A;G snv 6
rs397507505
PTPN11
0.827 0.240 12 112450352 missense variant A/C;G;T snv 5
rs376607329
PTPN11
0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05 4
rs267606990
RPL6 ; PTPN11
0.851 0.240 12 112419116 missense variant C/T snv 4
rs387907158
PTPN11
0.882 0.160 12 112450475 stop gained A/T snv 3
rs267606989
PTPN11
1.000 0.120 12 112453274 stop gained C/T snv 1
rs387907157
PTPN11
1.000 0.120 12 112489092 stop gained C/T snv 1
rs397516807
PTPN11
1.000 0.120 12 112455968 frameshift variant A/- del 1
rs398122857
PTPN11
1.000 0.120 12 112453271 frameshift variant GTACG/- del 1
rs398122858
PTPN11
1.000 0.120 12 112453320 frameshift variant CTGGTG/AAGAACACAGGGGAGAGCA delins 1