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: rs752603642
rs752603642
TSC2
2 0.925 0.160 16 2072888 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs754504918
rs754504918
TSC2
1 1.000 0.120 16 2071816 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs764288120
rs764288120
TSC2
1 1.000 0.120 16 2061983 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs993614997
rs993614997
TSC2
1 1.000 0.120 16 2081714 missense variant C/T snv 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs45483392
rs45483392
TSC2
2 0.925 0.120 16 2087897 missense variant C/A;T snv 0.700 0
dbSNP: rs45517382
rs45517382
TSC2
2 0.925 0.120 16 2086834 missense variant A/G snv 0.700 0
dbSNP: rs45509500
rs45509500
TSC2
1 1.000 0.120 16 2072923 synonymous variant C/G;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs45460895
rs45460895
TSC2
1 1.000 0.120 16 2055520 splice donor variant G/A snv 0.700 0
dbSNP: rs45488500
rs45488500
TSC2
1 1.000 0.120 16 2054441 splice donor variant G/T snv 0.700 0
dbSNP: rs137854052
rs137854052
TSC2
1 1.000 0.120 16 2058765 frameshift variant -/C delins 0.700 1.000 2 2001 2001
dbSNP: rs137854106
rs137854106
TSC2
1 1.000 0.120 16 2079357 frameshift variant A/- delins 0.700 1.000 2 2001 2001
dbSNP: rs1567533189
rs1567533189
TSC2
2 0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 0.700 1.000 1 2019 2019
dbSNP: rs137854329
rs137854329
TSC2
1 1.000 0.120 16 2085238 frameshift variant -/T delins 0.700 0
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
3 0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins 0.700 0