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: 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: 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: rs376607329
rs376607329
PTPN11
4 0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05 0.800 1.000 2 2010 2014
dbSNP: rs267606920
rs267606920
NRAS
4 0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 5 2002 2017
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: 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: rs397507541
rs397507541
PTPN11
5 0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
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: 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: rs397507504
rs397507504
PTPN11
2 0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06 0.700 0
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: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.800 1.000 35 2001 2017
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.800 1.000 21 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 18 2001 2019
dbSNP: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 17 2001 2017
dbSNP: rs121918454
rs121918454
PTPN11
17 0.742 0.280 12 112450395 missense variant C/A;G;T 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: rs121918458
rs121918458
PTPN11
8 0.807 0.320 12 112489080 missense variant T/A;G snv 0.800 1.000 17 2001 2017
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.800 1.000 17 2001 2017
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: rs121918463
rs121918463
PTPN11
6 0.851 0.240 12 112477651 missense variant T/A;C;G snv 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