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: 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: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0025286
Disease: Meningioma
Meningioma 		0.010 1.000 1 2019 2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		0.010 1.000 1 2019 2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.010 1.000 1 2019 2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2019 2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 1.000 1 2017 2017
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.010 1.000 1 2019 2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
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: 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: rs45512692
rs45512692
NTHL1 ; TSC2
1.000 0.120 16 2048649 stop gained A/T snv 4.0E-06
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs397515020
rs397515020
NTHL1 ; TSC2
1.000 0.120 16 2048658 frameshift variant T/-;TT delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2006 2006
dbSNP: rs137854360
rs137854360
NTHL1 ; TSC2
1.000 0.120 16 2048747 frameshift variant CTGA/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs137854117
rs137854117
NTHL1 ; TSC2
1.000 0.120 16 2048750 splice donor variant AGAG/-;AG delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1567386603
rs1567386603
TSC2
1.000 0.120 16 2050399 splice acceptor variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 3 1999 2014
dbSNP: rs1567387207
rs1567387207
TSC2
0.882 0.200 16 2050487 splice donor variant G/A snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 0
dbSNP: rs1567387207
rs1567387207
TSC2
0.882 0.200 16 2050487 splice donor variant G/A snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0