Source: CURATED

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: rs137854307
rs137854307
TSC2
16 2084640 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1999 2001
dbSNP: rs397514919
rs397514919
TSC2
16 2079326 missense variant T/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2005 2011
dbSNP: rs45517248
rs45517248
TSC2
16 2075802 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2007 2015
dbSNP: rs137854028
rs137854028
TSC2
16 2084994 frameshift variant G/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2007 2007
dbSNP: rs1800715
rs1800715
TSC2
16 2075936 intron variant C/A;G;T snv 0.11; 2.0E-05
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2516739
rs2516739
NTHL1 ; TSC2
16 2047157 non coding transcript exon variant G/A snv 0.30
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2516739
rs2516739
NTHL1 ; TSC2
16 2047157 non coding transcript exon variant G/A snv 0.30
CUI: C0023980
Disease: Longevity
Longevity 		0.800 1.000 1 2010 2010
dbSNP: rs45517183
rs45517183
TSC2
16 2064429 splice donor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2006 2006
dbSNP: rs1114167459
rs1114167459
TSC2
16 2081761 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167460
rs1114167460
TSC2
16 2088045 splice acceptor variant CA/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167461
rs1114167461
TSC2
16 2079157 frameshift variant -/GATACGTC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167463
rs1114167463
TSC2
16 2074235 frameshift variant -/AC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167465
rs1114167465
TSC2
16 2056746 stop gained G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167466
rs1114167466
TSC2
16 2065517 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167468
rs1114167468
PKD1 ; TSC2
16 2088225 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555506395
rs1555506395
TSC2
16 2072244 frameshift variant CT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs45469392
rs45469392
TSC2
16 2084546 stop gained G/A;T snv 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs747237113
rs747237113
TSC2
16 2058784 missense variant G/A snv 4.6E-06 7.0E-06
CUI: C1968959
Disease: Cortical tubers
Cortical tubers 		0.700 0
dbSNP: rs876658878
rs876658878
TSC2
16 2054317 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs796053483
rs796053483
TSC2
1.000 0.040 16 2060775 missense variant C/G snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 1.000 1 2019 2019
dbSNP: rs45517403
rs45517403
TSC2
1.000 0.040 16 2088143 missense variant A/C;G snv
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.700 0
dbSNP: rs45517403
rs45517403
TSC2
1.000 0.040 16 2088143 missense variant A/C;G snv
CUI: C1860711
Disease: Dental enamel pits
Dental enamel pits 		0.700 0
dbSNP: rs745895675
rs745895675
TSC2
1.000 0.080 16 2085299 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 1.000 1 2017 2017
dbSNP: rs45517258
rs45517258
TSC2
0.925 0.120 16 2076141 missense variant C/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 29 1996 2017
dbSNP: rs45517259
rs45517259
TSC2
0.925 0.120 16 2076142 missense variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 27 1996 2017