Gene: TSC1 ×
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: rs749030456
rs749030456
TSC1
1 1.000 0.080 9 132928809 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 1 2017 2017
dbSNP: rs1060505021
rs1060505021
TSC1
1 1.000 0.080 9 132921872 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs118203427
rs118203427
TSC1
3 0.882 0.200 9 132921418 stop gained G/A snv 0.700 0
dbSNP: rs118203542
rs118203542
TSC1
4 0.851 0.200 9 132906053 stop gained G/A snv 0.700 0
dbSNP: rs118203631
rs118203631
TSC1
4 0.851 0.200 9 132903785 stop gained G/A snv 0.700 0
dbSNP: rs1564488264
rs1564488264
TSC1
3 0.882 0.200 9 132911110 frameshift variant T/- del 0.700 0