Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397507526
rs397507526
PTPN11
1 1.000 0.160 12 112472972 missense variant T/A;G snv 0.700 1.000 17 2001 2017
dbSNP: rs201787206
rs201787206
PTPN11
1 1.000 0.160 12 112477722 missense variant A/G snv 5.0E-04 2.5E-04 0.700 1.000 15 2001 2017
dbSNP: rs397516797
rs397516797
PTPN11
1 1.000 0.160 12 112502222 missense variant C/T snv 4.0E-05 7.0E-05 0.700 1.000 15 2001 2017
dbSNP: rs886043790
rs886043790
PTPN11
1 1.000 0.160 12 112450355 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 15 2001 2017
dbSNP: rs564251686
rs564251686
PLAAT4
1 1.000 0.160 11 63544632 missense variant G/A snv 4.4E-05 6.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs397507524
rs397507524
PTPN11
1 1.000 0.160 12 112472949 inframe insertion ACA/-;ACAACA delins 0.700 0
dbSNP: rs765642157
rs765642157
PTPN11
1 1.000 0.160 12 112472969 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs80338836
rs80338836
PTPN11
1 1.000 0.160 12 112450357 inframe deletion GTG/- delins 0.700 0
dbSNP: rs869025574
rs869025574
PTPN11
1 1.000 0.160 12 112450360 inframe deletion GAT/- delins 0.700 0
dbSNP: rs397507525
rs397507525
PTPN11
2 0.925 0.160 12 112472968 missense variant C/T snv 7.0E-06 0.700 1.000 17 2001 2017
dbSNP: rs397507543
rs397507543
PTPN11
2 0.925 0.160 12 112489078 missense variant G/A snv 0.700 1.000 17 2001 2017
dbSNP: rs869320687
rs869320687
SOS2
2 0.925 0.160 14 50161551 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs397507504
rs397507504
PTPN11
2 0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs397514553
rs397514553
NRAS
2 0.925 0.200 1 114716060 missense variant G/A snv 0.700 0
dbSNP: rs397516801
rs397516801
PTPN11
2 0.925 0.160 12 112450389 missense variant A/G snv 0.700 0
dbSNP: rs606231228
rs606231228
BRAF
2 0.925 0.160 7 140777013 missense variant C/A;G snv 0.700 0
dbSNP: rs869025573
rs869025573
NRAS
2 1.000 0.160 1 114716090 missense variant A/T snv 0.700 0
dbSNP: rs397507511
rs397507511
PTPN11
3 0.882 0.240 12 112450385 missense variant G/A;C snv 0.700 1.000 17 2001 2017
dbSNP: rs397507523
rs397507523
PTPN11
3 0.882 0.160 12 112472954 missense variant A/G snv 0.800 1.000 15 2001 2017
dbSNP: rs113954997
rs113954997
RRAS2
3 0.882 0.280 11 14294844 missense variant T/A;C snv 0.700 0
dbSNP: rs180177034
rs180177034
BRAF
3 0.882 0.200 7 140801536 missense variant C/G snv 0.700 0
dbSNP: rs267606921
rs267606921
NRAS
3 0.882 0.160 1 114713941 missense variant G/A snv 0.700 0
dbSNP: rs672601335
rs672601335
RIT1
3 0.882 0.160 1 155904456 missense variant C/G snv 0.700 0
dbSNP: rs876657651
rs876657651
MAP2K1
3 0.882 0.160 15 66436818 missense variant A/G snv 0.700 0
dbSNP: rs267606990
rs267606990
PTPN11 ; RPL6
4 0.851 0.240 12 112419116 missense variant C/T snv 0.800 1.000 17 2001 2017