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: rs1567533189
rs1567533189
TSC2
2 0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 0.700 1.000 1 2019 2019
dbSNP: rs796053483
rs796053483
TSC2
1 1.000 0.040 16 2060775 missense variant C/G snv 7.0E-06 0.700 1.000 1 2019 2019