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: rs45497997
rs45497997
TSC2
1.000 0.120 16 2084712 missense variant C/G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517122
rs45517122
TSC2
1.000 0.120 16 2056675 missense variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517138
rs45517138
TSC2
1.000 0.120 16 2058773 missense variant T/C snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517147
rs45517147
TSC2
1.000 0.120 16 2060776 missense variant T/C snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517153
rs45517153
TSC2
1.000 0.120 16 2060687 missense variant C/A;T snv 1.6E-05
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517156
rs45517156
TSC2
1.000 0.120 16 2061970 missense variant T/G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517202
rs45517202
TSC2
1.000 0.120 16 2070535 missense variant A/G;T snv 4.0E-06
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517236
rs45517236
TSC2
1.000 0.120 16 2074291 missense variant C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517238
rs45517238
TSC2
1.000 0.120 16 2074320 missense variant C/A snv 6.8E-04 7.2E-04
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517355
rs45517355
TSC2
1.000 0.120 16 2085306 missense variant A/G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517380
rs45517380
TSC2
1.000 0.120 16 2086810 missense variant A/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517381
rs45517381
TSC2
1.000 0.120 16 2086811 missense variant C/G;T snv 7.3E-05
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517383
rs45517383
TSC2
1.000 0.120 16 2086840 missense variant C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517413
rs45517413
PKD1 ; TSC2
1.000 0.120 16 2088297 missense variant T/C snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 16 1996 2005
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
0.882 0.200 16 2088293 missense variant C/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 11 1998 2016
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
0.925 0.120 16 2088294 missense variant G/A;C;T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 1.000 9 1998 2016
dbSNP: rs45517169
rs45517169
TSC2
0.925 0.120 16 2062982 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 9 1999 2017
dbSNP: rs45517258
rs45517258
TSC2
0.925 0.120 16 2076141 missense variant C/G;T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 1.000 9 1998 2015
dbSNP: rs45517259
rs45517259
TSC2
0.925 0.120 16 2076142 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1999 2015
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1998 2013
dbSNP: rs45469298
rs45469298
TSC2
0.851 0.200 16 2070570 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1996 2013
dbSNP: rs45517099
rs45517099
TSC2
1.000 0.120 16 2053384 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 7 1999 2010
dbSNP: rs137854175
rs137854175
TSC2
1.000 0.120 16 2084998 frameshift variant ACAA/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 6 1997 2011
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 6 1998 2013
dbSNP: rs45517179
rs45517179
TSC2
0.882 0.200 16 2064341 stop gained C/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 6 1996 2006