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: 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: 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: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
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: rs267607042
rs267607042
SETBP1
5 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 1 2013 2013
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: rs786201367
rs786201367
NF1
6 0.827 0.280 17 31357308 stop gained 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: rs772295894
rs772295894
NF1
7 0.807 0.280 17 31338739 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs1555534433
rs1555534433
NF1
5 0.827 0.280 17 31335032 splice donor 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: rs137854552
rs137854552
NF1
7 0.807 0.280 17 31334927 stop gained C/T 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: rs771529172
rs771529172
NF1
6 0.827 0.280 17 31327719 missense variant G/A;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: rs1567862991
rs1567862991
NF1
5 0.827 0.280 17 31260481 stop gained C/T 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: rs1131691075
rs1131691075
NF1
6 0.827 0.280 17 31235773 splice donor variant G/A;T snv 0.700 0
dbSNP: rs137854556
rs137854556
NF1
5 0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1064794277
rs1064794277
NF1
5 0.827 0.280 17 31232832 missense variant G/A;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: rs1567847905
rs1567847905
NF1
5 0.827 0.280 17 31227232 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