Source: BEFREE

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: rs1060500931
rs1060500931
TSC2
0.925 0.120 16 2064302 stop gained C/T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2012 2012
dbSNP: rs1114167462
rs1114167462
TSC2
1.000 0.120 16 2062533 stop gained C/T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2012 2012
dbSNP: rs1273957629
rs1273957629
TSC2
1.000 0.080 16 2076130 missense variant G/A;T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs13337626
rs13337626
TSC2
1.000 0.040 16 2075833 missense variant T/C;G snv 7.0E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.010 1.000 1 2012 2012
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: rs143168379
rs143168379
TSC2
1.000 0.040 16 2080180 missense variant G/A;C;T snv 8.0E-05 4.2E-05
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.010 1.000 1 2017 2017
dbSNP: rs1459518095
rs1459518095
TSC2
1.000 0.120 16 2084552 missense variant C/G;T snv 4.2E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2012 2012
dbSNP: rs149860212
rs149860212
TSC2
1.000 16 2074317 missense variant G/A;C snv 4.0E-06; 8.0E-06
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 < 0.001 1 2016 2016
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: 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: 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: 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: 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: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.010 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: rs199476095
rs199476095
PKD1 ; TSC2 ; MIR1225 ; LOC105371049
0.925 0.200 16 2089957 stop gained G/A;C snv 4.1E-06
CUI: C0010709
Disease: Cyst
Cyst 		0.010 1.000 1 2014 2014
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: 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: 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: 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: rs367963898
rs367963898
TSC2
1.000 0.120 16 2060734 missense variant A/G snv 2.0E-05 7.0E-05
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.010 1.000 1 2019 2019