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: rs397507517
rs397507517
PTPN11
8 0.827 0.160 12 112450497 missense variant A/C snv 0.800 1.000 17 2001 2017
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.800 1.000 17 2001 2017
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.800 1.000 17 2001 2017
dbSNP: rs121918470
rs121918470
PTPN11
10 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs137852813
rs137852813
SOS1
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 0
dbSNP: rs397517150
rs397517150
SOS1
7 0.827 0.160 2 39023118 missense variant A/C;G snv 0.700 0
dbSNP: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.800 1.000 17 2001 2017
dbSNP: rs397507505
rs397507505
PTPN11
5 0.827 0.240 12 112450352 missense variant A/C;G;T snv 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: rs180177042
rs180177042
BRAF
8 0.807 0.280 7 140749365 missense variant A/C;T snv 0.700 0
dbSNP: rs28933386
rs28933386
PTPN11
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 35 2001 2018
dbSNP: rs397507547
rs397507547
PTPN11
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.800 1.000 18 2001 2019
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 17 2001 2017
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.800 1.000 17 2001 2017
dbSNP: rs397507529
rs397507529
PTPN11
5 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 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: rs397507523
rs397507523
PTPN11
3 0.882 0.160 12 112472954 missense variant A/G snv 0.800 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: rs397507501
rs397507501
PTPN11
5 0.882 0.160 12 112446385 missense variant A/G snv 0.800 1.000 2 2010 2014
dbSNP: rs121908595
rs121908595
MAP2K1
8 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs397507504
rs397507504
PTPN11
2 0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs397516801
rs397516801
PTPN11
2 0.925 0.160 12 112450389 missense variant A/G snv 0.700 0
dbSNP: rs727505381
rs727505381
SOS1
5 0.925 0.160 2 39013523 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs876657651
rs876657651
MAP2K1
3 0.882 0.160 15 66436818 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