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: rs118203682
rs118203682
TSC1
5 0.882 0.160 9 132902640 stop gained G/A snv 0.700 0
dbSNP: rs118203707
rs118203707
TSC1
4 0.925 0.200 9 132900828 frameshift variant TTTG/- delins 0.700 0
dbSNP: rs1301051974
rs1301051974
TSC1
3 0.925 0.120 9 132905820 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011