Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1567489890
rs1567489890
TSC2
1.000 0.120 16 2077476 non coding transcript exon variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 0
dbSNP: rs773920155
rs773920155
TSC2
0.925 0.120 16 2061946 stop gained G/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 0