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: rs1372399305
rs1372399305
ACAN
1 1.000 0.160 15 88847281 missense variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs562015640
rs562015640
PTEN
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs1114167651
rs1114167651
PTEN
2 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
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: 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: rs1239105602
rs1239105602
PTEN ; KLLN
2 1.000 0.160 10 87864168 5 prime UTR variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs876657651
rs876657651
MAP2K1
3 0.882 0.160 15 66436818 missense variant A/G snv 0.700 0
dbSNP: rs1057519819
rs1057519819
MAP2K1
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs727504317
rs727504317
MAP2K1
6 0.807 0.320 15 66435145 missense variant G/A snv 0.700 1.000 4 2007 2012
dbSNP: rs1441638629
rs1441638629
CSHL1 ; GH1
2 0.925 0.200 17 63918773 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2012 2012
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: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 3 2006 2018
dbSNP: rs1434040739
rs1434040739
HRAS ; LRRC56 ; LOC101059906
2 0.925 0.200 11 532745 missense variant T/A snv 8.1E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs368625677
rs368625677
RRAS
1 1.000 0.160 19 49637121 missense variant C/G;T snv 4.1E-06; 3.3E-05 0.010 1.000 1 2014 2014
dbSNP: rs113461014
rs113461014
STAT5B
2 0.925 0.200 17 42232124 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs727504370
rs727504370
MAP2K2
2 0.925 0.200 19 4110558 missense variant T/C snv 0.700 1.000 3 2007 2008
dbSNP: rs727504382
rs727504382
MAP2K2
2 0.925 0.200 19 4101105 missense variant C/T snv 0.700 0
dbSNP: rs140074469
rs140074469
GRAP2
1 1.000 0.160 22 39966148 missense variant G/A snv 7.2E-05 3.4E-04 0.010 1.000 1 2005 2005
dbSNP: rs397517164
rs397517164
SOS1
2 0.925 0.160 2 39058696 missense variant C/T snv 0.700 1.000 7 2007 2014
dbSNP: rs397517166
rs397517166
SOS1
2 0.925 0.160 2 39058683 missense variant G/C snv 0.700 0
dbSNP: rs397517172
rs397517172
SOS1
3 0.925 0.160 2 39056704 missense variant T/C snv 0.700 1.000 5 2008 2018
dbSNP: rs397517174
rs397517174
SOS1
3 0.925 0.160 2 39054822 missense variant A/C;G snv 0.700 0
dbSNP: rs137852812
rs137852812
SOS1
4 0.851 0.200 2 39051211 missense variant G/T snv 0.700 1.000 5 2007 2010