Source: BEFREE ×
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: rs1085307113
rs1085307113
MTOR
1 1.000 0.080 1 11114338 missense variant A/G;T snv 0.810 1.000 1 2015 2015
dbSNP: rs1038322721
rs1038322721
AKT1
1 1.000 0.080 14 104775774 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1057519950
rs1057519950
RHEB
1 0.827 0.200 7 151490963 missense variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1229729609
rs1229729609
PIK3CD
1 1.000 0.080 1 9715706 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019