SCAP, SREBF chaperone, 22937

N. diseases: 35; N. variants: 3
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: rs12487736
rs12487736 		1.000 0.080 3 47418189 missense variant C/T snv 0.54 0.47
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12487736
rs12487736 		1.000 0.080 3 47418189 missense variant C/T snv 0.54 0.47
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12490383
rs12490383 		1.000 0.080 3 47452667 intron variant T/C snv 0.14
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12490383
rs12490383 		1.000 0.080 3 47452667 intron variant T/C snv 0.14
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4858889
rs4858889 		1.000 0.080 3 47438867 intron variant A/G snv 2.8E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2017 2017