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: rs745410279
rs745410279
IGF1
2 0.925 0.200 12 102478498 missense variant T/C snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs267607048
rs267607048
SHOC2
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.750 1.000 9 2009 2019
dbSNP: rs267606990
rs267606990
PTPN11 ; RPL6
4 0.851 0.240 12 112419116 missense variant C/T snv 0.700 1.000 4 2003 2014
dbSNP: rs397507501
rs397507501
PTPN11
5 0.882 0.160 12 112446385 missense variant A/G snv 0.710 1.000 9 2002 2013
dbSNP: rs397507503
rs397507503
PTPN11
1 1.000 0.160 12 112450335 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs397507504
rs397507504
PTPN11
2 0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06 0.700 1.000 2 2011 2016
dbSNP: rs397507505
rs397507505
PTPN11
5 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.710 1.000 17 2003 2015
dbSNP: rs397507506
rs397507506
PTPN11
6 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 1.000 5 2003 2013
dbSNP: rs397507507
rs397507507
PTPN11
1 1.000 0.160 12 112450358 missense variant G/A;C;T snv 0.700 1.000 2 2006 2012
dbSNP: rs397507509
rs397507509
PTPN11
9 0.807 0.240 12 112450359 missense variant G/C;T snv 0.710 1.000 14 2002 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: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.720 1.000 27 2001 2018
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.710 1.000 8 2002 2012
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.720 0.923 13 2001 2013
dbSNP: rs1057517917
rs1057517917
PTPN11
2 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.020 0.500 2 2006 2012
dbSNP: rs397507511
rs397507511
PTPN11
3 0.882 0.240 12 112450385 missense variant G/A;C snv 0.700 1.000 4 2003 2013
dbSNP: rs727503380
rs727503380
PTPN11
2 0.925 0.160 12 112450386 missense variant A/T snv 0.700 1.000 6 2004 2017
dbSNP: rs397516801
rs397516801
PTPN11
2 0.925 0.160 12 112450389 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs397507512
rs397507512
PTPN11
2 0.925 0.160 12 112450391 missense variant T/C;G snv 0.700 1.000 5 2003 2008
dbSNP: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.710 1.000 18 2002 2009
dbSNP: rs121918454
rs121918454
PTPN11
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.710 1.000 8 2001 2014
dbSNP: rs397516802
rs397516802
PTPN11
1 1.000 0.160 12 112450397 missense variant AC/CT mnv 0.700 1.000 5 2003 2012
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.740 1.000 24 2002 2015
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs397507514
rs397507514
PTPN11
10 0.790 0.240 12 112450408 missense variant G/C;T snv 0.710 1.000 9 2001 2011