Gene: TSC2 ×
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: rs745895675
rs745895675
TSC2
1 1.000 0.080 16 2085299 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs1131691965
rs1131691965
TSC2
3 0.882 0.200 16 2074394 splice region variant G/C snv 0.700 0
dbSNP: rs1567387207
rs1567387207
TSC2
3 0.882 0.200 16 2050487 splice donor variant G/A snv 0.700 0
dbSNP: rs1567437155
rs1567437155
TSC2
3 0.882 0.200 16 2064286 frameshift variant C/- del 0.700 0
dbSNP: rs28934872
rs28934872
TSC2
5 0.851 0.200 16 2070571 missense variant G/A snv 0.700 0
dbSNP: rs45469298
rs45469298
TSC2
5 0.851 0.200 16 2070570 missense variant C/G;T snv 0.700 0
dbSNP: rs45517179
rs45517179
TSC2
3 0.882 0.200 16 2064341 stop gained C/G;T snv 0.700 0
dbSNP: rs45517222
rs45517222
TSC2
3 0.882 0.200 16 2072879 stop gained C/T snv 0.700 0
dbSNP: rs45517395
rs45517395
TSC2
4 0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
4 0.882 0.200 16 2088293 missense variant C/G;T snv 0.700 0