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: rs267606990
rs267606990
PTPN11 ; RPL6
4 0.851 0.240 12 112419116 missense variant C/T snv 0.800 1.000 17 2001 2017
dbSNP: rs397507501
rs397507501
PTPN11
5 0.882 0.160 12 112446385 missense variant A/G snv 0.800 1.000 2 2010 2014
dbSNP: rs397507504
rs397507504
PTPN11
2 0.925 0.160 12 112450346 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs397507505
rs397507505
PTPN11
5 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.700 0
dbSNP: rs397507506
rs397507506
PTPN11
6 0.807 0.240 12 112450354 missense variant C/A;G snv 0.800 1.000 2 2010 2014
dbSNP: rs886043790
rs886043790
PTPN11
1 1.000 0.160 12 112450355 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 15 2001 2017
dbSNP: rs80338836
rs80338836
PTPN11
1 1.000 0.160 12 112450357 inframe deletion GTG/- delins 0.700 0
dbSNP: rs397507509
rs397507509
PTPN11
9 0.807 0.240 12 112450359 missense variant G/C;T snv 0.800 1.000 2 2010 2014
dbSNP: rs869025574
rs869025574
PTPN11
1 1.000 0.160 12 112450360 inframe deletion GAT/- delins 0.700 0
dbSNP: rs397507510
rs397507510
PTPN11
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.800 1.000 17 2001 2017
dbSNP: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.800 1.000 17 2001 2017
dbSNP: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.800 1.000 17 2001 2017
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 17 2001 2017
dbSNP: rs397507511
rs397507511
PTPN11
3 0.882 0.240 12 112450385 missense variant G/A;C snv 0.700 1.000 17 2001 2017
dbSNP: rs397516801
rs397516801
PTPN11
2 0.925 0.160 12 112450389 missense variant A/G snv 0.700 0
dbSNP: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 17 2001 2017
dbSNP: rs121918454
rs121918454
PTPN11
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.800 1.000 17 2001 2017
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.800 1.000 35 2001 2017
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 0
dbSNP: rs397507514
rs397507514
PTPN11
10 0.790 0.240 12 112450408 missense variant G/C;T snv 0.800 1.000 17 2001 2017
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.800 1.000 17 2001 2017
dbSNP: rs397507517
rs397507517
PTPN11
8 0.827 0.160 12 112450497 missense variant A/C snv 0.800 1.000 17 2001 2017
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.800 1.000 17 2001 2017
dbSNP: rs397507524
rs397507524
PTPN11
1 1.000 0.160 12 112472949 inframe insertion ACA/-;ACAACA delins 0.700 0
dbSNP: rs397507523
rs397507523
PTPN11
3 0.882 0.160 12 112472954 missense variant A/G snv 0.800 1.000 15 2001 2017