Source: CLINVAR ×
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: 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: rs397516895
rs397516895
BRAF
5 0.827 0.280 7 140753392 missense variant A/T snv 0.700 0
dbSNP: rs397517148
rs397517148
SOS1
26 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs397517150
rs397517150
SOS1
6 0.827 0.160 2 39023118 missense variant A/C;G snv 0.700 0
dbSNP: rs397517154
rs397517154
SOS1
15 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs606231228
rs606231228
BRAF
2 0.925 0.160 7 140777013 missense variant C/A;G snv 0.700 0
dbSNP: rs672601334
rs672601334
RIT1
17 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
dbSNP: rs672601335
rs672601335
RIT1
3 0.882 0.160 1 155904456 missense variant C/G snv 0.700 0
dbSNP: rs727505381
rs727505381
SOS1
4 0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
dbSNP: rs80338796
rs80338796
RAF1
35 0.667 0.480 3 12604200 missense variant G/A;C 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: rs869025191
rs869025191
RIT1
9 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
dbSNP: rs869025195
rs869025195
RIT1
11 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
dbSNP: rs869025573
rs869025573
NRAS
1 1.000 0.160 1 114716090 missense variant A/T snv 0.700 0
dbSNP: rs869025574
rs869025574
PTPN11
1 1.000 0.160 12 112450360 inframe deletion GAT/- delins 0.700 0
dbSNP: rs876657651
rs876657651
MAP2K1
3 0.882 0.160 15 66436818 missense variant A/G snv 0.700 0
dbSNP: rs121918462
rs121918462
PTPN11
8 0.742 0.320 12 112450398 missense variant C/T snv 0.800 1.000 21 2001 2017
dbSNP: rs28933386
rs28933386
PTPN11
14 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 19 2001 2018
dbSNP: rs397507549
rs397507549
PTPN11
6 0.742 0.240 12 112489104 missense variant C/A;G snv 0.800 1.000 5 2001 2017
dbSNP: rs397507547
rs397507547
PTPN11
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.800 1.000 1 2001 2019
dbSNP: rs121918453
rs121918453
PTPN11
15 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 0 2001 2017
dbSNP: rs121918454
rs121918454
PTPN11
16 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.800 1.000 0 2001 2017
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.800 1.000 0 2001 2017