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: rs45517150
rs45517150
TSC2
1.000 0.120 16 2060655 intron variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 5 1999 2015
dbSNP: rs45517132
rs45517132
TSC2
1.000 0.120 16 2057459 intron variant C/A;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 3 1999 2015
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: rs181088346
rs181088346
TSC2
0.925 0.080 16 2069770 intron variant G/A snv 2.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs181088346
rs181088346
TSC2
0.925 0.080 16 2069770 intron variant G/A snv 2.3E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs181088346
rs181088346
TSC2
0.925 0.080 16 2069770 intron variant G/A snv 2.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2233518
rs2233518
NTHL1 ; TSC2
0.882 0.080 16 2046383 intron variant G/A snv 2.7E-03 1.1E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs2233518
rs2233518
NTHL1 ; TSC2
0.882 0.080 16 2046383 intron variant G/A snv 2.7E-03 1.1E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs2233518
rs2233518
NTHL1 ; TSC2
0.882 0.080 16 2046383 intron variant G/A snv 2.7E-03 1.1E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs30259
rs30259
TSC2
1.000 0.080 16 2083900 intron variant C/T snv 6.4E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs397515319
rs397515319
TSC2
1.000 0.120 16 2076482 intron variant C/G;T snv 3.2E-05
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2011 2011
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: 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: 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
dbSNP: rs45517411
rs45517411
PKD1 ; TSC2
1.000 0.120 16 2088286 stop gained G/A;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 5 1997 2015
dbSNP: rs45517222
rs45517222
TSC2
0.882 0.200 16 2072879 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 4 1999 2014
dbSNP: rs45517308
rs45517308
TSC2
0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 1.000 4 2001 2017
dbSNP: rs45477491
rs45477491
TSC2
1.000 0.120 16 2080209 stop gained C/A;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 3 1999 2010
dbSNP: rs45517099
rs45517099
TSC2
1.000 0.120 16 2053384 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1999 2006
dbSNP: rs45517213
rs45517213
TSC2
1.000 0.120 16 2072251 stop gained G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 3 1999 2007
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2017 2019
dbSNP: rs45451497
rs45451497
TSC2
1.000 0.120 16 2080179 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1999 2001
dbSNP: rs45451497
rs45451497
TSC2
1.000 0.120 16 2080179 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 2 1999 2006
dbSNP: rs45465195
rs45465195
TSC2
1.000 0.120 16 2079159 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 2 2000 2011
dbSNP: rs45469099
rs45469099
TSC2
1.000 0.120 16 2060805 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 2 1998 2011