Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2516739
rs2516739
NTHL1 ; TSC2
CUI: C0023980
Disease: Longevity
Longevity 		0.800 GeneticVariation GWASDB Joint influence of small-effect genetic variants on human longevity. 20834067

2010
dbSNP: rs2516739
rs2516739
NTHL1 ; TSC2
CUI: C0023980
Disease: Longevity
Longevity 		0.800 GeneticVariation GWASCAT Joint influence of small-effect genetic variants on human longevity. 20834067

2010
dbSNP: rs137854117
rs137854117
NTHL1 ; TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs137854360
rs137854360
NTHL1 ; TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		A 0.700 CausalMutation CLINVAR

dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		A 0.700 CausalMutation CLINVAR

dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		A 0.700 CausalMutation CLINVAR

dbSNP: rs2516739
rs2516739
NTHL1 ; TSC2
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs372946560
rs372946560
NTHL1
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397515020
rs397515020
NTHL1 ; TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		GT 0.700 CausalMutation CLINVAR Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations. 16835931

2006
dbSNP: rs45512692
rs45512692
NTHL1 ; TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE The carrier of c.268C>T (p.Q90*) and 550-1G>A was diagnosed with CRC and meningioma at ages 37 and 45 respectively, being reclassified as attenuated adenomatous polyposis after the cumulative detection of 26 adenomas. 31227763

2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE We found sufficient evidence for NTHL1 to be considered a CRC predisposition gene-members of 3 unrelated Dutch families were homozygous for inactivating p.Gln90Ter mutations; a Canadian woman with polyposis, CRC, and multiple tumors was reported to be heterozygous for the inactivating NTHL1 p.Gln90Ter/c.709+1G>A mutations; and a man with polyposis was reported to carry p.Gln90Ter/p.Gln287Ter; whereas no inactivating homozygous or compound heterozygous mutations were detected in controls. 27713038

2017
dbSNP: rs146347092
rs146347092
NTHL1
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 GeneticVariation BEFREE We found sufficient evidence for NTHL1 to be considered a CRC predisposition gene-members of 3 unrelated Dutch families were homozygous for inactivating p.Gln90Ter mutations; a Canadian woman with polyposis, CRC, and multiple tumors was reported to be heterozygous for the inactivating NTHL1 p.Gln90Ter/c.709+1G>A mutations; and a man with polyposis was reported to carry p.Gln90Ter/p.Gln287Ter; whereas no inactivating homozygous or compound heterozygous mutations were detected in controls. 27713038

2017
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.010 GeneticVariation BEFREE The carrier of c.268C>T (p.Q90*) and 550-1G>A was diagnosed with CRC and meningioma at ages 37 and 45 respectively, being reclassified as attenuated adenomatous polyposis after the cumulative detection of 26 adenomas. 31227763

2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		0.010 GeneticVariation BEFREE The carrier of c.268C>T (p.Q90*) and 550-1G>A was diagnosed with CRC and meningioma at ages 37 and 45 respectively, being reclassified as attenuated adenomatous polyposis after the cumulative detection of 26 adenomas. 31227763

2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.010 GeneticVariation BEFREE The carrier of c.268C>T (p.Q90*) and 550-1G>A was diagnosed with CRC and meningioma at ages 37 and 45 respectively, being reclassified as attenuated adenomatous polyposis after the cumulative detection of 26 adenomas. 31227763

2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 GeneticVariation BEFREE The carrier of c.268C>T (p.Q90*) and 550-1G>A was diagnosed with CRC and meningioma at ages 37 and 45 respectively, being reclassified as attenuated adenomatous polyposis after the cumulative detection of 26 adenomas. 31227763

2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0025286
Disease: Meningioma
Meningioma 		0.010 GeneticVariation BEFREE The carrier of c.268C>T (p.Q90*) and 550-1G>A was diagnosed with CRC and meningioma at ages 37 and 45 respectively, being reclassified as attenuated adenomatous polyposis after the cumulative detection of 26 adenomas. 31227763

2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 GeneticVariation BEFREE We found sufficient evidence for NTHL1 to be considered a CRC predisposition gene-members of 3 unrelated Dutch families were homozygous for inactivating p.Gln90Ter mutations; a Canadian woman with polyposis, CRC, and multiple tumors was reported to be heterozygous for the inactivating NTHL1 p.Gln90Ter/c.709+1G>A mutations; and a man with polyposis was reported to carry p.Gln90Ter/p.Gln287Ter; whereas no inactivating homozygous or compound heterozygous mutations were detected in controls. 27713038

2017
dbSNP: rs2233518
rs2233518
NTHL1 ; TSC2
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation BEFREE The NTH1 c.98G>T polymorphism rs2302172 (p = 0.02 and p = 0.02 for allele and genotype frequency between cases and controls, respectively) and the 140-17C> T variant (rs2233518) (p = 0.02 and p = 0.02 for allele and genotype frequency between cases and controls, respectively) were detected in four lung cancer cases (4 %) while the NTH1 Q131K (C391A) polymorphism was found in seven lung cancer cases (7 %) (p = 0.001 and p = 0.008, for allele and genotype frequency between cases and controls, respectively). 26400813

2015
dbSNP: rs2233518
rs2233518
NTHL1 ; TSC2
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE The NTH1 c.98G>T polymorphism rs2302172 (p = 0.02 and p = 0.02 for allele and genotype frequency between cases and controls, respectively) and the 140-17C> T variant (rs2233518) (p = 0.02 and p = 0.02 for allele and genotype frequency between cases and controls, respectively) were detected in four lung cancer cases (4 %) while the NTH1 Q131K (C391A) polymorphism was found in seven lung cancer cases (7 %) (p = 0.001 and p = 0.008, for allele and genotype frequency between cases and controls, respectively). 26400813

2015