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: rs397516803
rs397516803
PTPN11
1 1.000 0.160 12 112450415 missense variant C/A snv 0.700 1.000 3 2003 2012
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.730 1.000 11 2001 2009
dbSNP: rs397507517
rs397507517
PTPN11
8 0.827 0.160 12 112450497 missense variant A/C snv 0.700 1.000 9 2002 2011
dbSNP: rs397507518
rs397507518
PTPN11
2 0.925 0.160 12 112450508 missense variant G/A snv 0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.710 1.000 17 2002 2013
dbSNP: rs727503381
rs727503381
PTPN11
1 1.000 0.160 12 112454636 missense variant A/T snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs397507523
rs397507523
PTPN11
3 0.882 0.160 12 112472954 missense variant A/G snv 0.700 1.000 6 2003 2014
dbSNP: rs397516809
rs397516809
PTPN11
1 1.000 0.160 12 112472961 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs397507525
rs397507525
PTPN11
2 0.925 0.160 12 112472968 missense variant C/T snv 7.0E-06 0.700 1.000 2 2012 2012
dbSNP: rs376607329
rs376607329
PTPN11
4 0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05 0.700 1.000 3 2011 2018
dbSNP: rs397507527
rs397507527
PTPN11
1 1.000 0.160 12 112472989 missense variant G/A;T snv 4.0E-06 0.700 1.000 2 2006 2012
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.710 1.000 15 2002 2011
dbSNP: rs397507529
rs397507529
PTPN11
5 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.700 1.000 9 2001 2011
dbSNP: rs397507530
rs397507530
PTPN11
1 1.000 0.160 12 112473033 missense variant C/G snv 0.700 1.000 2 2013 2016
dbSNP: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 1.000 5 2002 2009
dbSNP: rs121918463
rs121918463
PTPN11
6 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.710 1.000 6 2002 2012
dbSNP: rs397516810
rs397516810
PTPN11
2 0.925 0.160 12 112477652 missense variant T/G snv 0.700 1.000 5 2002 2009
dbSNP: rs28933386
rs28933386
PTPN11
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.720 1.000 15 2001 2019
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.710 1.000 9 2002 2017
dbSNP: rs1398859175
rs1398859175
PTPN11
1 1.000 0.160 12 112477882 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs201247699
rs201247699
PTPN11
2 0.925 0.240 12 112486476 missense variant G/C snv 6.4E-05 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs121918469
rs121918469
PTPN11
3 0.882 0.160 12 112488454 missense variant G/C snv 0.700 1.000 5 2006 2009
dbSNP: rs397507539
rs397507539
PTPN11
8 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.720 1.000 8 2004 2018
dbSNP: rs397507540
rs397507540
PTPN11
8 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 1.000 13 2004 2014
dbSNP: rs397507541
rs397507541
PTPN11
5 0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 4 2004 2014