PMID: 17903301

Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.

BMC medical genetics
RS Vasan, MG Larson, J Aragam, TJ Wang, GF Mitchell, S Kathiresan, C Newton-Cheh, JA Vita, MJ Keyes, CJ O'Donnell, D Levy, EJ Benjamin
2007-09-19

68 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-61426698-C-T TANC2 c.1586-1913C>T - IntronicSNV - 11/25
14-72832335-G-T RGS6 c.184+13433G>T - IntronicSNV - 3/17
16-77940534-A-G VAT1L c.1077+21835A>G - IntronicSNV - 7/8
3-148606725-G-C CPA3 c.1066+2761G>C - IntronicSNV - 10/10
1-160800559-A-G CD244 c.*578T>C - 3-UTRSNV 9/9 -
6-43654536-G-C MRPS18A c.112+869C>G - IntronicSNV - 1/5
11-122928875-C-A HSPA8 c.1755+85G>T - IntronicSNV - 8/8
7-101165373-A-T COL26A1 c.380-10990A>T - IntronicSNV - 3/13
9-119622438-C-T ASTN2 c.1887+3424G>A - IntronicSNV - 10/21
12-11878464-C-A ETV6 c.34-26920C>A - IntronicSNV - 1/7
8-30936356-G-T WRN c.840-2027G>T - IntronicSNV - 8/34
10-115972382-G-A TDRD1 c.1831+587G>A - IntronicSNV - 14/25
17-61782920-C-T STRADA c.748-978G>A - IntronicSNV - 8/10
11-109995944-C-T ZC3H12C c.22-11444C>T - IntronicSNV - 1/5
17-61441463-A-G TANC2 c.2360+8712A>G - IntronicSNV - 13/25
7-150739330-G-A ABCB8 c.1765+135G>A - IntronicSNV - 14/15
4-120515263-C-T PDE5A c.831+2415G>A - IntronicSNV - 3/20
1-230988920-G-A C1orf198 c.384+2494C>T - IntronicSNV - 2/3
3-148562310-G-A CPB1 c.622G>A p.Asp208Asn Missense 7/11 -
1-230988920-G-T C1orf198 c.384+2494C>A - IntronicSNV - 2/3
10-115927279-A-G CCDC186 c.1-4252T>C - IntronicSNV - 1/15
15-78288975-G-C TBC1D2B c.*1622C>G - 3-UTRSNV 13/13 -
15-85348172-G-T ZNF592 c.*2548G>T - 3-UTRSNV 11/11 -
15-85348172-G-A ZNF592 c.*2548G>A - 3-UTRSNV 11/11 -
14-72832335-G-A RGS6 c.184+13433G>A - IntronicSNV - 3/17
11-122928875-C-T HSPA8 c.1755+85G>A - IntronicSNV - 8/8
22-22180183-C-T MAPK1 c.120-18048G>A - IntronicSNV - 1/8
7-150739330-G-C ABCB8 c.1765+135G>C - IntronicSNV - 14/15
1-237911004-C-T RYR2 c.11145+5355C>T - IntronicSNV - 80/104
10-115661165-G-C NHLRC2 c.1140-260G>C - IntronicSNV - 6/10
9-119064047-C-T PAPPA c.2954-989C>T - IntronicSNV - 9/21
5-139375070-T-C NRG2 c.700+46885A>G - IntronicSNV - 1/10
10-115661165-G-A NHLRC2 c.1140-260G>A - IntronicSNV - 6/10
7-101165373-A-G COL26A1 c.380-10990A>G - IntronicSNV - 3/13
7-117134517-C-G CFTR c.54-9790C>G - IntronicSNV - 1/26
1-184440541-T-C C1orf21 c.1-6103T>C - IntronicSNV - 1/5
10-115894959-C-G CCDC186 c.1513-145G>C - IntronicSNV - 9/15
1-231003214-A-C C1orf198 c.333+712T>G - IntronicSNV - 1/3
17-31949779-C-T ASIC2 c.556-510694G>A - IntronicSNV - 1/9
1-184440541-T-A C1orf21 c.1-6103T>A - IntronicSNV - 1/5
6-165995940-C-G PDE10A c.68-38884G>C - IntronicSNV - 1/21
8-133742977-A-T TMEM71 c.431-2745T>A - IntronicSNV - 5/9
1-33945685-C-A ZSCAN20 c.417+379C>A - IntronicSNV - 2/7
1-66310865-T-C PDE4B c.-71+51934T>C - intron_variant - 1/16
10-115617376-G-A NHLRC2 c.179-911G>A - IntronicSNV - 1/10
14-34184786-G-A NPAS3 c.734-19634G>A - IntronicSNV - 6/11
1-230813314-A-T COG2 c.1027-1345A>T - IntronicSNV - 9/17
10-105647095-G-A STN1 c.949+1735C>T - IntronicSNV - 9/9
3-113101410-G-A CFAP44 c.1891-1503C>T - IntronicSNV - 15/20
7-150500455-A-G TMEM176A c.286-33A>G - IntronicSNV - 3/6
2-155188523-T-G GALNT13 c.1156+30421T>G - IntronicSNV - 9/12
7-151275806-A-G PRKAG2 c.865-2268T>C - IntronicSNV - 6/15
8-73778642-G-A KCNB2 c.580-69528G>A - IntronicSNV - 2/2
10-115967012-G-A TDRD1 c.1384+923G>A - IntronicSNV - 11/25
5-148606756-A-G ABLIM3 c.758-3456A>G - IntronicSNV - 8/23
5-148606756-A-C ABLIM3 c.758-3456A>C - IntronicSNV - 8/23
6-43654536-G-A MRPS18A c.112+869C>T - IntronicSNV - 1/5
11-99934868-G-C CNTN5 c.1162+2743G>C - IntronicSNV - 10/24
1-231003214-A-T C1orf198 c.333+712T>A - IntronicSNV - 1/3
10-115971995-A-G TDRD1 c.1831+200A>G - IntronicSNV - 14/25
15-53810995-G-A WDR72 c.3254-1044C>T - IntronicSNV - 19/19
5-139290054-C-T NRG2 c.701-22958G>A - IntronicSNV - 1/10
1-237924112-C-A RYR2 c.11403-143C>A - IntronicSNV - 83/104
6-116598475-T-C TSPYL1 c.*1205A>G - 3-UTRSNV 1/1 -
7-151275752-T-C PRKAG2 c.865-2214A>G - IntronicSNV - 6/15
10-115894959-C-A CCDC186 c.1513-145G>T - IntronicSNV - 9/15
1-237924112-C-T RYR2 c.11403-143C>T - IntronicSNV - 83/104
3-148565482-G-A CPB1 c.981+2069G>A - IntronicSNV - 9/10