Source: CLINVAR

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
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 24
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12