Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins 4
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins 6
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29