TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Autism Spectrum Disorders ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1567533189
rs1567533189 		0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs796053483
rs796053483 		1.000 0.040 16 2060775 missense variant C/G snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019