PMID: 24916648

A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.

European journal of human genetics : EJHG
M Hirokawa, H Morita, T Tajima, A Takahashi, K Ashikawa, F Miya, D Shigemizu, K Ozaki, Y Sakata, D Nakatani, S Suna, Y Imai, T Tanaka, T Tsunoda, K Matsuda, T Kadowaki, Y Nakamura, R Nagai, I Komuro, M Kubo
2015-03

91 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-136139265-C-A ABO c.29-1694G>T - IntronicSNV - 1/7
6-12875054-G-A PHACTR1 c.250+125032G>A - IntronicSNV - 4/14
6-12875054-G-T PHACTR1 c.250+125032G>T - IntronicSNV - 4/14
10-91010479-A-C LIPA c.-2+1015T>G - intron_variant - 1/9
19-11084994-A-G SMARCA4 c.1-9834A>G - IntronicSNV - 1/34
12-112110489-T-C BRAP c.723A>G p.Arg241Arg Synonymous 5/12 -
3-138119952-T-C MRAS c.527+497T>C - IntronicSNV - 5/5
6-35034800-G-C ANKS1A c.2184+6770G>C - IntronicSNV - 13/23
10-104614350-C-T BORCS7 c.141+166C>T - IntronicSNV - 1/5
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
6-151253382-C-T MTHFD1L c.1257-4558C>T - IntronicSNV - 11/27
12-90096345-T-C ATP2B1 c.-222+6651A>G - intron_variant - 1/20
1-57003810-T-C PLPP3 c.140-1026A>G - IntronicSNV - 1/5
1-57003810-T-A PLPP3 c.140-1026A>T - IntronicSNV - 1/5
7-107244545-C-T BCAP29 c.589+3595C>T - IntronicSNV - 6/7
6-35031441-C-T ANKS1A c.2184+3411C>T - IntronicSNV - 13/23
9-136139265-C-T ABO c.29-1694G>A - IntronicSNV - 1/7
1-154422067-T-C IL6R c.997-320T>C - IntronicSNV - 7/9
1-154410955-C-A IL6R c.949+2369C>A - IntronicSNV - 6/9
15-67458639-T-C SMAD3 c.533-478T>C - IntronicSNV - 3/8
6-35009153-T-C ANKS1A c.2011-12723T>C - IntronicSNV - 11/23
1-154410955-C-T IL6R c.949+2369C>T - IntronicSNV - 6/9
19-2195799-A-C DOT1L c.651+1223A>C - IntronicSNV - 7/27
1-56962821-A-G PLPP3 c.811-473T>C - IntronicSNV - 5/5
3-14898136-A-G FGD5 c.2526-7499A>G - IntronicSNV - 1/19
19-11166827-G-A SMARCA4 c.4425-2104G>A - IntronicSNV - 30/34
1-109815252-A-G CELSR2 c.8055-10A>G - IntronicSNV - 29/33
3-14919646-G-T FGD5 c.2659-2433G>T - IntronicSNV - 2/19
14-100133398-T-C HHIPL1 c.1649-1161T>C - IntronicSNV - 6/8
17-2119101-C-T SMG6 c.145+20685G>A - IntronicSNV - 3/11
17-2119101-C-G SMG6 c.145+20685G>C - IntronicSNV - 3/11
14-100133942-T-C HHIPL1 c.1649-617T>C - IntronicSNV - 6/8
6-12919867-G-A PHACTR1 c.251-133730G>A - IntronicSNV - 4/14
7-107303628-C-T SLC26A4 c.165-113C>T - IntronicSNV - 2/20
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
1-57028050-C-T PLPP3 c.139+16501G>A - IntronicSNV - 1/5
6-134213181-C-T TCF21 c.*241C>T - IntronicSNV 3/3 -
6-160842725-A-G SLC22A3 c.975+10847A>G - IntronicSNV - 5/10
2-85816334-A-G VAMP5 c.4-2514A>G - IntronicSNV - 1/2
13-110960712-A-G COL4A2 c.99+242A>G - IntronicSNV - 3/47
8-19813180-G-A LPL c.776-172G>A - IntronicSNV - 5/9
19-11163601-G-T SMARCA4 c.4425-5330G>T - IntronicSNV - 30/34
9-136149722-A-C ABO c.28+856T>G - IntronicSNV - 1/7
9-136149722-A-G ABO c.28+856T>C - IntronicSNV - 1/7
17-46988597-C-T UBE2Z c.390+355C>T - IntronicSNV - 2/6
6-151253382-C-G MTHFD1L c.1257-4558C>G - IntronicSNV - 11/27
3-17126696-G-A PLCL2 c.3205-4529G>A - intron_variant - 8/8
17-1975657-G-A SMG6 c.958-3432C>T - IntronicSNV - 8/11
6-12927544-C-G PHACTR1 c.251-126053C>G - IntronicSNV - 4/14
1-222923351-A-G FAM177B c.428A>G p.Gln143Arg Missense 6/6 -
6-151252917-A-G MTHFD1L c.1257-5023A>G - IntronicSNV - 11/27
6-151253382-C-A MTHFD1L c.1257-4558C>A - IntronicSNV - 11/27
12-112119171-T-C BRAP c.443+270A>G - IntronicSNV - 3/11
12-90081188-T-G ATP2B1 c.-222+21808A>C - intron_variant - 1/20
12-90081188-T-A ATP2B1 c.-222+21808A>T - intron_variant - 1/20
12-90081188-T-C ATP2B1 c.-222+21808A>G - intron_variant - 1/20
14-88972303-A-G PTPN21 c.449-588T>C - IntronicSNV - 4/18
3-16970781-T-C PLCL2 c.327+43916T>C - intron_variant - 4/8
15-79089111-A-G ADAMTS7 c.640T>C p.Ser214Pro Missense 4/24 -
3-17124384-A-G PLCL2 c.3205-6841A>G - intron_variant - 8/8
1-154436195-C-T IL6R c.1161-1415C>T - IntronicSNV - 9/9
6-110932032-T-C CDK19 c.*3706A>G - 3-UTRSNV 13/13 -
16-82707348-T-C CDH13 c.45+46606T>C - IntronicSNV - 1/13
12-89989599-G-A ATP2B1 c.3351+3295C>T - IntronicSNV - 20/20
6-11774792-C-G ADTRP c.153+4048G>C - IntronicSNV - 1/5
6-11774792-C-T ADTRP c.153+4048G>A - IntronicSNV - 1/5
6-39174922-T-C KCNK5 c.187-11159A>G - IntronicSNV - 1/4
1-16466003-T-C EPHA2 c.824-1078A>G - IntronicSNV - 3/16
6-39182401-G-A KCNK5 c.186+14301C>T - IntronicSNV - 1/4
3-14898136-A-C FGD5 c.2526-7499A>C - IntronicSNV - 1/19
5-131667353-A-G SLC22A4 c.952-96A>G - IntronicSNV - 5/9
6-151252985-G-A MTHFD1L c.1257-4955G>A - IntronicSNV - 11/27
6-134213181-C-G TCF21 c.*241C>G - IntronicSNV 3/3 -
19-2206163-G-A DOT1L c.788-565G>A - IntronicSNV - 9/27
2-203745885-T-C WDR12 c.1195-225A>G - IntronicSNV - 12/12
7-129362665-T-G NRF1 c.1224-4416T>G - IntronicSNV - 9/10
6-161143608-T-G PLG c.1256+9T>G - IntronicSNV - 10/18
6-161143608-T-C PLG c.1256+9T>C - IntronicSNV - 10/18
3-138122122-C-T MRAS c.*1011C>T - 3-UTRSNV 6/6 -
2-203792816-C-T CARF c.-44+10050C>T - intron_variant - 2/15
13-28973621-G-A FLT1 c.1552-2416C>T - IntronicSNV - 11/29
19-2195799-A-G DOT1L c.651+1223A>G - IntronicSNV - 7/27
6-11774583-A-G ADTRP c.153+4257T>C - IntronicSNV - 1/5
14-100133942-T-A HHIPL1 c.1649-617T>A - IntronicSNV - 6/8
10-69201534-A-G CTNNA3 c.579+80066T>C - IntronicSNV - 5/17
10-69201534-A-T CTNNA3 c.579+80066T>A - IntronicSNV - 5/17
17-2126504-G-C SMG6 c.145+13282C>G - IntronicSNV - 3/11
14-100170895-A-G CYP46A1 c.444-2089A>G - IntronicSNV - 5/14
3-138122122-C-A MRAS c.*1011C>A - 3-UTRSNV 6/6 -
11-116624703-G-T BUD13 c.1766+3159C>A - IntronicSNV - 9/9
1-33809437-A-G PHC2 c.1556-9544T>C - IntronicSNV - 8/13