Source: ALL

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: rs748676559
rs748676559
ACACA
0.925 0.080 17 37284932 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 1998 1998
dbSNP: rs755418013
rs755418013
ACACA
1.000 0.040 17 37130209 missense variant G/A snv 4.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2016 2016
dbSNP: rs758980216
rs758980216
ACACA
1.000 0.040 17 37149965 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2016 2016
dbSNP: rs775831954
rs775831954
ACACA
1.000 0.080 17 37248015 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 1998 1998
dbSNP: rs9906543
rs9906543
ACACA
17 37162308 intron variant T/A;C snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2009 2009