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Cardiovascular diseases with associated genes and SNP's

If you tested your DNA with a personal genomics service like 23andMe, DeCODEme, FTDNA's Family Finder or another testing company, you can learn more about your risk factors for hundreds of diseases. Many of these SNP's are tested but not (yet) part of the report provided by personal genomics companies. This is free extra information.

We recommend that you install the SNPTips add-on for Mozilla Firefox to browse these pages. It allows you to upload your DNA results in the browser and show instantly which allele variant you have for each of the SNP listed below.

What can DNA tell you about yourself ?

List of cardiovascular diseases with the associated genes

Risk alleles : Substantially lower risk (over 3x less), moderately lower risk (up to 3x less), normal, slightly higher risk (up to 3x more), greatly increased risk (over 3x more). Normal alleles marked with a * mean that the person is a carrier of the disease. Depending on the testing company, sometimes A is reported as T, and G is reported as C, or vice-versa.Question marks (?) mean that we doubt the validity of the risk alleles because of their very high frequency.

Testing companies :
A = 23andMe
(all versions) ; A2* = 23andMe (v2 only) ; A2 = 23andMe (v2 & v3) ; A3 = 23andMe (v3 only)
B = DeCODEme
Bold letters indicate that the SNP is part of the official report, and is therefore likely to be more reliable. Only SNP's in the official report are listed for deCODEme.

Description Chromosome Gene SNP Risk alleles Tested by*
Abdominal Aortic Aneurysm 5 MTRR rs326118 A3
7 IL6 rs1800796 CC, CG, GG A
9 intergenic rs10116277 GG, GT, TT A, B
9 intergenic rs10757278 AA, AG, GG A
9 intergenic rs10811661 A
14 MTHFD1 rs8003379 A
Intracranial Aneurysm 1 1p34-36
2 BOLL rs700651 AA, AG, GG A
5 CSPG2 rs173686 CC, CT, TT A
7 7q11
8 intergenic rs10958409 AA, AG, GG A
9 intergenic rs10757278 AA, AG, GG A
9 intergenic rs1333040 CC, CT, TT A
9 9p21 rs10116277 A, B
11 11q25
14 14q23–q31 rs767603 CC, CT, TT A3
19 19q13.1-13.3
Atherosclerosis (hyperlipidemia) 1 USF1 rs2516839 CC, CT, TT A
rs2073658 CC, CT, TT A
4 FGB rs1800787 CC, CT, TT A
Atrial Fibrillation 1 EDN2 rs5800 AA, AG, GG A3
4 AF (4q25) rs10033464 GG, GT, TT A, B
rs2200733 CC, CT, TT A, B
6 6q14-16 region
10 10q22 region
Cardiovascular disease 1 FMN2 rs17672135 CC, CT, TT A
1 PSRC1 rs599839 AA, AG, GG A, B
1 CRP rs3091244 A3
2 HSPD1 rs788016 AA, AG, GG A
rs2565163 AA, AG, GG A3
rs2340690 CC, CT, TT A3
2 HSPE1 rs2305560 CC, CT, TT A3
5 intergenic rs383830 AA, AT, TT A
6 MTHFD1L rs6922269 AA, AG, GG A
7 NOS3 rs1799983 GG, GT, TT A2*
rs207044 CC, CT, TT A3
rs1800779 AA, AG, GG A
rs1800783 AA, AT, TT A3
9 intergenic rs10757274 AA, AG, GG A
9 intergenic rs2383206 AA, AG, GG A
10 intergenic rs501120 AA, AG, GG A
11 MMP3 rs3025058 DD, DI, II A2*
11 MYBPC3
13 KL rs9536314 GG, GT, TT A
rs9527025 CC, CG, GG
15 SMAD3 rs17228212 CC, CT, TT A
16 CDH13 rs8055236 GG, GT, TT A
17 ACE rs1799752 DD, DI, II A2*
19 intergenic rs7250581 AA, AG, GG A
22 SEZ6L rs688034 CC, CT, TT A
Cardiovascular disease (early onset) 3 GATA2 rs2713604 CC, CT, TT A
rs3803 AA, AG, GG A
Cardiovascular disease (cholesterol level) 1 CELSR2 rs4970834 A
1 ARHGAP30 rs2774279 CC, CT, TT A
2 intergenic rs2943634 AA, AC, CC A
6 EDN1 rs5370 GG, GT, TT A
8 LPL rs326 AA, AG, GG A
15 LIPC rs1800588 CC, CT, TT A
16 CETP rs183130 CC, CT, TT A
18 MC4R rs2229616 AA, AG, GG A
20 PLTP rs3843763 CC, CT, TT A
Familial hypercholesterolemia 1 PCSK9 rs505151 AA, AG, GG A
(Type B) 2 APOB rs5742904 AA, AG, GG A
rs12713559 CC, CT, TT A
i4000339 AA, AG, GG A
2 intergenic rs7566605 CC, CG, GG A
19 LDLR rs28941776 AA, AG, GG
rs28942081 AA, AG, GG
rs28942082 GG, GT, TT
(early atherosclerosis in children) 7 PON1 rs854560 AA, AT, TT
Myocardial infarction
(heart attack)
1 PSRC1 rs599839 AA, AG, GG A, B
1 TNFSF4 rs1234315 CC, CT, TT A
rs1234312 A3
rs1234313 AA, AG, GG A
rs3850641 AA, AG, GG A
rs3861950 A3
3 ITIH3
5 IL4 rs2243250 CC, CT, TT A
9 9p21 rs10116277 GG, GT, TT A, B
9 9p21 rs2383207 AA, AG, GG A
rs1537375 CC, CT, TT A
9 9p21 rs10757278 AA, AG, GG A
9 9p21 rs1333049 CC, CG, GG A
9 TLR4 rs4986790 AA, AG, GG A
11 MMP3 rs3025058 DD, DI, II A
12 SH2B3 rs3184504 CC, CT, TT A
12 BRAP rs3782886 CC, CT, TT A
14 PSMA6
17 ITGB3 rs5918 CC, CT, TT A
20 MMP9 rs3918242 CC, CT, TT A3
rs17576 AA, AG, GG A
22 FLJ25967 rs2331291 A3
Myocardial infarction
(early onset)
1 intergenic rs646776 CC, CT, TT A
1 MIA3 rs17465637 AA, AC, CC A
1 intergenic rs11206510 CC, CT, TT A
2 WDR12 rs6725887 CC, CT, TT A
10 intergenic rs1746048 CC, CT, TT A
Peripheral Arterial Disease 3 MRAS rs2306374 CC, CT, TT A
15 CHRNA5 rs951266 CC, CT, TT A3
15 CHRNA3 rs1051730 AA, AG, GG A, B
Stroke 1 F5 rs7542281 A
rs2269648 A
rs2420369
rs6025 AA, AG, GG A
2 PROC rs1401296 A
3 SERPINI1 rs6797312 AA, AT, TT A3
9 intergenic rs10757278 AA, AG, GG A
10 CYP51A1 rs1041296 A
12 GNB3 rs5443 CC, CT, TT A
14 PRKCH rs2230500 AA, AG, GG A
rs3783799 A3
19 ICAM1 rs5030341 A3
20 THBD rs1042580 A
Venous Thromboembolism 1 F5 rs6025 AA, AG, GG A, B
1 F2 rs1799963 AA, AG, GG
1 SELE rs5361 AA, AC, CC A
1 LPL rs268 AA, AG, GG A
5 ADRB2 rs1042714 CC, CG, GG A
11 F2 i3002432 AA, AG, GG A


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