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: rs779530981
rs779530981
PTEN
4 1.000 0.160 10 87933035 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs786204916
rs786204916
PTEN
1 1.000 0.160 10 87894105 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs866445127
rs866445127
NF1
7 0.851 0.240 17 31352348 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs867983497
rs867983497
COMP
1 1.000 0.160 19 18785986 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs878854761
rs878854761
HRAS ; LRRC56
1 1.000 0.160 11 534319 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs917927904
rs917927904
PTEN ; KLLN
2 1.000 0.160 10 87864242 5 prime UTR variant G/T snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs990933830
rs990933830
NCOR1
1 1.000 0.160 17 16058563 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1057517917
rs1057517917
PTPN11
2 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.020 0.500 2 2006 2012
dbSNP: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T snv 0.020 1.000 2 1998 2003
dbSNP: rs397517154
rs397517154
SOS1
16 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 19 2007 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: rs121918458
rs121918458
PTPN11
8 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 1.000 12 2002 2013
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 10 2005 2012
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 10 1992 2018
dbSNP: rs397507517
rs397507517
PTPN11
8 0.827 0.160 12 112450497 missense variant A/C snv 0.700 1.000 9 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: rs137852814
rs137852814
SOS1
16 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 1.000 8 2007 2014
dbSNP: rs193929331
rs193929331
KRAS
2 0.925 0.160 12 25245372 missense variant T/C snv 0.700 1.000 8 2007 2014
dbSNP: rs397507510
rs397507510
PTPN11
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.700 1.000 7 2002 2014
dbSNP: rs397507544
rs397507544
PTPN11
1 1.000 0.160 12 112489081 missense variant C/T snv 0.700 1.000 7 2004 2008
dbSNP: rs397507547
rs397507547
PTPN11
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 1.000 7 2002 2008
dbSNP: rs397517159
rs397517159
SOS1
4 0.882 0.200 2 39007168 missense variant C/T snv 0.700 1.000 7 2007 2013
dbSNP: rs397517164
rs397517164
SOS1
2 0.925 0.160 2 39058696 missense variant C/T snv 0.700 1.000 7 2007 2014
dbSNP: rs483352822
rs483352822
RIT1
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 1.000 7 2013 2016
dbSNP: rs121434594
rs121434594
RAF1
5 0.827 0.160 3 12604189 missense variant G/A;C;T snv 0.700 1.000 6 2007 2013