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: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.730 1.000 3 2004 2014
dbSNP: rs11555293
rs11555293
IGFBP7 ; IGFBP7-AS1
1 1.000 0.080 4 57110126 missense variant C/T snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1131691073
rs1131691073
NF1
6 0.827 0.280 17 31340553 stop gained C/T snv 0.700 0
dbSNP: rs121918457
rs121918457
PTPN11
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs137854552
rs137854552
NF1
7 0.807 0.280 17 31334927 stop gained C/T snv 0.700 0
dbSNP: rs1567847905
rs1567847905
NF1
5 0.827 0.280 17 31227232 stop gained C/T snv 0.700 0
dbSNP: rs1567862991
rs1567862991
NF1
5 0.827 0.280 17 31260481 stop gained C/T snv 0.700 0
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: 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: rs786201367
rs786201367
NF1
6 0.827 0.280 17 31357308 stop gained C/T snv 0.700 0
dbSNP: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
dbSNP: rs1240948789
rs1240948789
OSBP2 ; LOC107985544
1 1.000 0.080 22 30889607 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
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: rs776906066
rs776906066
CBL
1 1.000 0.080 11 119206455 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs137854555
rs137854555
NF1
2 0.925 0.160 17 31261810 stop gained G/A snv 0.700 0
dbSNP: rs1555534433
rs1555534433
NF1
5 0.827 0.280 17 31335032 splice donor variant G/A snv 0.700 0
dbSNP: rs786202112
rs786202112
NF1
7 0.827 0.280 17 31327839 missense variant G/A snv 0.700 0
dbSNP: rs876660696
rs876660696
NF1
6 0.827 0.280 17 31335016 stop gained G/A snv 0.700 0
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: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.870 1.000 10 2003 2019
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: rs267607042
rs267607042
SETBP1
5 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs137854556
rs137854556
NF1
5 0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 0.700 0
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