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: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.800 1.000 21 2002 2019
dbSNP: rs121918457
rs121918457
PTPN11
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.780 1.000 24 2002 2018
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.740 1.000 13 2005 2017
dbSNP: rs121918470
rs121918470
PTPN11
10 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.730 1.000 8 2004 2019
dbSNP: rs397507548
rs397507548
PTPN11
6 0.851 0.160 12 112489093 missense variant A/C snv 0.720 1.000 11 2003 2019
dbSNP: rs397507529
rs397507529
PTPN11
5 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.710 1.000 9 2001 2011
dbSNP: rs121918468
rs121918468
PTPN11
3 0.882 0.160 12 112488444 missense variant G/A;T snv 0.700 1.000 8 2004 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: rs121918469
rs121918469
PTPN11
3 0.882 0.160 12 112488454 missense variant G/C snv 0.700 1.000 5 2006 2009
dbSNP: rs80338797
rs80338797
RAF1
7 0.827 0.160 3 12584624 missense variant G/C;T snv 0.700 1.000 5 2007 2010
dbSNP: rs397507542
rs397507542
PTPN11
9 0.790 0.320 12 112489069 missense variant G/T snv 0.700 1.000 4 2004 2008
dbSNP: rs397507541
rs397507541
PTPN11
5 0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 3 2004 2006
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 3 2007 2015
dbSNP: rs387906661
rs387906661
BRAF
6 0.807 0.280 7 140801551 missense variant T/G snv 0.700 0
dbSNP: rs397507466
rs397507466
BRAF
6 0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs80338798
rs80338798
RAF1
2 0.925 0.160 3 12585761 missense variant C/T snv 0.700 0
dbSNP: rs80338799
rs80338799
RAF1
3 0.882 0.160 3 12585745 missense variant G/A;C snv 0.700 0
dbSNP: rs587782343
rs587782343
PTEN
4 0.851 0.200 10 87933073 missense variant G/A snv 0.080 1.000 8 2004 2019
dbSNP: rs397509345
rs397509345
PTPN11
5 0.851 0.160 12 112489093 missense variant AG/CC mnv 0.020 1.000 2 2011 2019
dbSNP: rs190222208
rs190222208
SOS1
2 0.925 0.160 2 39035268 missense variant G/A snv 8.0E-05 8.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs397507537
rs397507537
PTPN11
1 1.000 0.160 12 112488465 missense variant A/C snv 0.010 1.000 1 2015 2015
dbSNP: rs397507550
rs397507550
PTPN11
3 0.882 0.160 12 112489106 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs552434792
rs552434792
PIK3R2
1 1.000 0.160 19 18166272 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs587782360
rs587782360
PTEN
5 0.851 0.280 10 87933162 missense variant A/G snv 0.010 1.000 1 2008 2008