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: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
dbSNP: rs876660696
rs876660696
NF1
6 0.827 0.280 17 31335016 stop gained G/A snv 0.700 0
dbSNP: rs786203896
rs786203896
NF1
6 0.827 0.280 17 31330468 stop gained G/T snv 0.700 0
dbSNP: rs786202112
rs786202112
NF1
7 0.827 0.280 17 31327839 missense variant G/A snv 0.700 0
dbSNP: rs786201367
rs786201367
NF1
6 0.827 0.280 17 31357308 stop gained C/T snv 0.700 0
dbSNP: rs778405030
rs778405030
NF1
6 0.827 0.280 17 31206297 stop gained C/T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs776906066
rs776906066
CBL
1 1.000 0.080 11 119206455 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2006 2019
dbSNP: rs772295894
rs772295894
NF1
7 0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs771529172
rs771529172
NF1
6 0.827 0.280 17 31327719 missense variant G/A;C;T snv 0.700 0
dbSNP: rs73420601
rs73420601
SGSM3
1 1.000 0.080 22 40404316 missense variant G/A snv 1.8E-04 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs727504426
rs727504426
CBL
3 0.882 0.320 11 119278508 splice acceptor variant A/G snv 0.700 1.000 4 2009 2012
dbSNP: rs562015640
rs562015640
PTEN
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.020 1.000 2 2011 2017
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs397514641
rs397514641
NF1
11 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs397507547
rs397507547
PTPN11
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs397507546
rs397507546
PTPN11
9 0.790 0.360 12 112489084 missense variant G/A;C;T snv 0.700 1.000 2 2003 2016
dbSNP: rs397507545
rs397507545
PTPN11
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.800 1.000 13 2003 2017
dbSNP: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
dbSNP: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.710 1.000 15 2002 2013
dbSNP: rs397507514
rs397507514
PTPN11
10 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
dbSNP: rs397507511
rs397507511
PTPN11
3 0.882 0.240 12 112450385 missense variant G/A;C snv 0.800 1.000 2 2003 2016
dbSNP: rs397507510
rs397507510
PTPN11
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.810 1.000 22 2003 2017
dbSNP: rs397507506
rs397507506
PTPN11
6 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 0
dbSNP: rs397507505
rs397507505
PTPN11
5 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.700 0