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: rs1057518945
rs1057518945
TSC1
2 1.000 0.120 9 132921824 frameshift variant C/- delins 0.700 0
dbSNP: rs118203707
rs118203707
TSC1
4 0.925 0.200 9 132900828 frameshift variant TTTG/- delins 0.700 0
dbSNP: rs1567489890
rs1567489890
TSC2
3 1.000 0.120 16 2077476 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs747237113
rs747237113
TSC2
1 16 2058784 missense variant G/A snv 4.6E-06 7.0E-06 0.700 0