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: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 1.000 1 2010 2010
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.010 1.000 1 2015 2015
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0042029
Disease: Urinary tract infection
Urinary tract infection 		0.010 1.000 1 2019 2019
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis 		0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		0.010 1.000 1 2019 2019
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C2931133
Disease: Pediatric Crohn's disease
Pediatric Crohn's disease 		0.010 1.000 1 2013 2013
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		0.010 1.000 1 2018 2018
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0747548
Disease: Pharyngeal Carcinoma
Pharyngeal Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 1.000 1 2019 2019
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0153405
Disease: Malignant neoplasm of pharynx
Malignant neoplasm of pharynx 		0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0009373
Disease: Colonic Diseases
Colonic Diseases 		0.010 1.000 1 2008 2008
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.010 1.000 1 2019 2019