Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507509
PTPN11
0.807 0.240 12 112450359 missense variant G/C;T snv 5
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv 9
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 8
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv 6
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv 6
rs121434594
RAF1
0.827 0.160 3 12604189 missense variant G/A;C;T snv 5
rs397507505
PTPN11
0.827 0.240 12 112450352 missense variant A/C;G;T snv 5
rs397516830
RAF1
0.827 0.160 3 12604182 missense variant A/C;G;T snv 5
rs397507541
PTPN11
0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06 4
rs104894365
KRAS
0.827 0.320 12 25245345 missense variant C/T snv 3
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs121918463
PTPN11
0.851 0.240 12 112477651 missense variant T/A;C;G snv 6
rs104894359
KRAS
0.851 0.200 12 25227346 missense variant C/G;T snv 4
rs137852812
SOS1
0.851 0.200 2 39051211 missense variant G/T snv 4
rs180177038
BRAF
0.851 0.200 7 140778007 missense variant C/G;T snv 4
rs376607329
PTPN11
0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05 4
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 4
rs397517149
SOS1
0.851 0.200 2 39022786 missense variant T/G snv 4
rs397517156
SOS1
0.851 0.200 2 39012333 missense variant T/A snv 4
rs267606990
RPL6 ; PTPN11
0.851 0.240 12 112419116 missense variant C/T snv 3
rs866445127
NF1
0.851 0.240 17 31352348 stop gained C/T snv 3
rs1057519819
MAP2K1
0.851 0.240 15 66436750 missense variant T/C snv 1