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: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1299878535
rs1299878535
IDH2
1 1.000 0.120 15 90091555 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1454647589
rs1454647589
SETD2
1 1.000 0.120 3 47124452 missense variant T/C snv 6.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs375501235
rs375501235
SETD2
1 1.000 0.120 3 47122189 missense variant A/T snv 3.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs879254249
rs879254249
TP53
1 1.000 0.120 17 7675122 missense variant T/C snv 0.010 1.000 1 2017 2017