rs150766139, NTHL1;TSC2

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
432 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0
Carcinoma of larynx
CUI: C0595989
Disease: Carcinoma of larynx
65 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0
FAMILIAL ADENOMATOUS POLYPOSIS 3
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
2 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0
Intracranial Meningioma
CUI: C0349604
Disease: Intracranial Meningioma
3 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.020 1.000 2 2017 2019
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019
Adult Meningioma
CUI: C0278877
Disease: Adult Meningioma
30 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019
Meningioma
CUI: C0025286
Disease: Meningioma
43 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019
Meningioma, benign, no ICD-O subtype
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
30 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019
Multiple polyps
CUI: C0334108
Disease: Multiple polyps
32 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2017 2017