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: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.800 1.000 17 2001 2017
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: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 0
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: 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: 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: rs397507545
rs397507545
PTPN11
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.800 1.000 17 2001 2017
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 0
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: 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: 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: 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: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant 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
dbSNP: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.800 1.000 15 2001 2017
dbSNP: rs137852814
rs137852814
SOS1
16 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs672601334
rs672601334
RIT1
18 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
dbSNP: rs397517154
rs397517154
SOS1
16 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs397507510
rs397507510
PTPN11
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.800 1.000 17 2001 2017
dbSNP: rs267607079
rs267607079
SOS1
13 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
dbSNP: rs397517148
rs397517148
SOS1
27 0.776 0.200 2 39023128 missense variant C/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