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: rs1172063879
rs1172063879
ACACA
1.000 0.040 17 37259427 missense variant C/T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2012 2012
dbSNP: rs1233948559
rs1233948559
ACACA
1.000 0.080 17 37161868 synonymous variant T/C snv 8.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 < 0.001 1 2015 2015
dbSNP: rs12453407
rs12453407
ACACA
17 37232521 intron variant A/G snv 0.65
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2009 2009
dbSNP: rs1266175
rs1266175
ACACA
17 37111115 intron variant A/G snv 0.54
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2009 2009
dbSNP: rs1277892620
rs1277892620
ACACA
0.925 0.120 17 37242036 synonymous variant A/G snv 4.0E-06 7.0E-06
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 1.000 1 2010 2010
dbSNP: rs1277892620
rs1277892620
ACACA
0.925 0.120 17 37242036 synonymous variant A/G snv 4.0E-06 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2002 2002
dbSNP: rs1395589486
rs1395589486
ACACA
0.925 0.080 17 37258316 missense variant A/G snv 4.0E-06
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.010 1.000 1 2004 2004
dbSNP: rs1395589486
rs1395589486
ACACA
0.925 0.080 17 37258316 missense variant A/G snv 4.0E-06
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		0.010 1.000 1 2004 2004
dbSNP: rs2229416
rs2229416
ACACA
17 37252940 synonymous variant C/T snv 0.18 0.12
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2009 2009
dbSNP: rs2542670
rs2542670
ACACA
1.000 0.040 17 37294135 intron variant A/G;T snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2020 2020
dbSNP: rs73982299
rs73982299
ACACA
1.000 0.080 17 37274293 missense variant C/T snv 2.3E-04 9.3E-04
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.010 1.000 1 2020 2020
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: rs748676559
rs748676559
ACACA
0.925 0.080 17 37284932 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 1998 1998
dbSNP: rs748676559
rs748676559
ACACA
0.925 0.080 17 37284932 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		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