Source: ALL

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: rs993614997
rs993614997
TSC2
1.000 0.120 16 2081714 missense variant C/T snv 2.1E-05
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2012 2012
dbSNP: rs397514914
rs397514914
TSC2
1.000 0.120 16 2071534 missense variant C/T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs397515225
rs397515225
TSC2
1.000 0.120 16 2080366 missense variant G/A;C snv 4.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs45469298
rs45469298
TSC2
0.851 0.200 16 2070570 missense variant C/G;T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs45509500
rs45509500
TSC2
1.000 0.120 16 2072923 synonymous variant C/G;T snv 4.0E-06; 5.6E-05
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs45514100
rs45514100
TSC2
0.925 0.160 16 2079093 stop gained C/G;T snv 4.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs45517234
rs45517234
TSC2
0.925 0.160 16 2074251 stop gained C/T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs752603642
rs752603642
TSC2
0.925 0.160 16 2072888 missense variant C/T snv 4.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs764288120
rs764288120
TSC2
1.000 0.120 16 2061983 missense variant T/C snv 4.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
dbSNP: rs1430119276
rs1430119276
TSC2
1.000 0.120 16 2079096 missense variant G/T snv 7.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 < 0.001 1 2019 2019
dbSNP: rs1567533189
rs1567533189
TSC2
0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 1.000 1 2019 2019
dbSNP: rs28934872
rs28934872
TSC2
0.851 0.200 16 2070571 missense variant G/A snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs45517278
rs45517278
TSC2
1.000 0.120 16 2079090 missense variant G/T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 < 0.001 1 2019 2019
dbSNP: rs754504918
rs754504918
TSC2
1.000 0.120 16 2071816 missense variant G/A snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2019 2019