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: rs776906066
rs776906066
CBL
1 1.000 0.080 11 119206455 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1064794277
rs1064794277
NF1
5 0.827 0.280 17 31232832 missense variant G/A;C;T snv 0.700 0
dbSNP: rs1131691073
rs1131691073
NF1
6 0.827 0.280 17 31340553 stop gained C/T snv 0.700 0
dbSNP: rs1131691075
rs1131691075
NF1
6 0.827 0.280 17 31235773 splice donor variant G/A;T snv 0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
dbSNP: rs137854550
rs137854550
NF1
10 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
dbSNP: rs137854552
rs137854552
NF1
7 0.807 0.280 17 31334927 stop gained C/T snv 0.700 0
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: 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: rs267606602
rs267606602
NF1
2 0.925 0.160 17 31221842 splice region variant 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
dbSNP: rs397507506
rs397507506
PTPN11
6 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 0
dbSNP: rs397507514
rs397507514
PTPN11
10 0.790 0.240 12 112450408 missense variant G/C;T snv 0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 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: rs786201367
rs786201367
NF1
6 0.827 0.280 17 31357308 stop gained C/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: rs786203896
rs786203896
NF1
6 0.827 0.280 17 31330468 stop gained G/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: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T 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