Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515632
rs397515632 		1.000 22 39231722 missense variant A/G snv
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.800 1.000 2 2013 2015
dbSNP: rs397515631
rs397515631 		1.000 22 39231645 stop gained G/A snv 7.0E-06
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 0
dbSNP: rs397515633
rs397515633 		0.925 0.040 22 39231633 stop gained G/A snv
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 0
dbSNP: rs398122398
rs398122398 		1.000 22 39225723 stop lost C/G snv
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 0
dbSNP: rs398122399
rs398122399 		1.000 22 39243961 start lost C/T snv
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 0
dbSNP: rs1158702707
rs1158702707 		1.000 0.080 22 39231710 missense variant G/A snv 7.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1800818
rs1800818 		1.000 0.040 22 39244698 5 prime UTR variant C/G;T snv
CUI: C4284413
Disease: Severe Fever with Thrombocytopenia Syndrome
Severe Fever with Thrombocytopenia Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2285094
rs2285094 		1.000 0.080 22 39226555 intron variant T/A;C snv
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs397515633
rs397515633 		0.925 0.040 22 39231633 stop gained G/A snv
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5757573
rs5757573 		0.925 0.120 22 39237617 intron variant C/T snv 0.57
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs5757573
rs5757573 		0.925 0.120 22 39237617 intron variant C/T snv 0.57
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018