PMID: 23050023

Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals.

PloS one
F Takeuchi, M Isono, T Katsuya, M Yokota, K Yamamoto, T Nabika, K Shimokawa, E Nakashima, T Sugiyama, H Rakugi, S Yamaguchi, T Ogihara, Y Yamori, N Kato
2012

73 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-116624703-G-T BUD13 c.1766+3159C>A - IntronicSNV - 9/9
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
11-116631391-T-C BUD13 c.1254+60A>G - IntronicSNV - 5/9
4-87988508-T-G AFF1 c.1039-16764T>G - IntronicSNV - 3/19
9-107635869-C-G ABCA1 c.421+9451G>C - IntronicSNV - 5/49
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
12-121431225-G-A HNF1A c.527-98G>A - IntronicSNV - 2/9
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
2-21231524-G-T APOB c.8216C>A p.Pro2739Gln Missense 26/29 -
1-109815252-A-G CELSR2 c.8055-10A>G - IntronicSNV - 29/33
9-107601541-G-A ABCA1 c.1054+1019C>T - IntronicSNV - 9/49
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
16-67977382-T-C LCAT c.155-267A>G - IntronicSNV - 1/5
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
19-11242658-T-A LDLR c.*666T>A - 3-UTRSNV 18/18 -
1-109814880-C-T CELSR2 c.7927-20C>T - IntronicSNV - 28/33
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11242658-T-C LDLR c.*666T>C - 3-UTRSNV 18/18 -
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
19-45477381-G-A CLPTM1 c.310-315G>A - IntronicSNV - 3/13
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
16-56919348-C-G SLC12A3 c.1925+72C>G - IntronicSNV - 15/25
16-56919348-C-A SLC12A3 c.1925+72C>A - IntronicSNV - 15/25
1-109792707-G-T CELSR2 c.6G>T p.Arg2Arg Synonymous 1/34 -
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
1-109792707-G-C CELSR2 c.6G>C p.Arg2Arg Synonymous 1/34 -
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
8-19813180-G-A LPL c.776-172G>A - IntronicSNV - 5/9
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107639414-G-A ABCA1 c.421+5906C>T - IntronicSNV - 5/49
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
1-63049819-G-A DOCK7 c.1801-894C>T - IntronicSNV - 15/48
4-87988508-T-A AFF1 c.1039-16764T>A - IntronicSNV - 3/19
8-126443148-C-A TRIB1 c.4C>A p.Arg2Arg Synonymous 1/3 -
12-121435587-G-A HNF1A c.1501+119G>A - IntronicSNV - 7/9
12-121435587-G-T HNF1A c.1501+119G>T - IntronicSNV - 7/9
9-107635869-C-T ABCA1 c.421+9451G>A - IntronicSNV - 5/49
9-107677289-A-G ABCA1 c.1-11329T>C - IntronicSNV - 1/49
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
12-125341870-C-A SCARB1 c.126+6271G>T - IntronicSNV - 1/12
9-107684318-A-C ABCA1 c.-93+5898T>G - intron_variant - 1/49
8-126443150-G-T TRIB1 c.6G>T p.Arg2Arg Synonymous 1/3 -
8-126443150-G-A TRIB1 c.6G>A p.Arg2Arg Synonymous 1/3 -
8-126443150-G-C TRIB1 c.6G>C p.Arg2Arg Synonymous 1/3 -
12-125341870-C-G SCARB1 c.126+6271G>C - IntronicSNV - 1/12
1-109792707-G-A CELSR2 c.6G>A p.Arg2Arg Synonymous 1/34 -
12-125341870-C-T SCARB1 c.126+6271G>A - IntronicSNV - 1/12
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
16-57017292-A-G CETP c.1376A>G p.Asp459Gly Missense 15/16 -
9-107586753-T-C ABCA1 c.2649A>G p.Ile883Met Missense 18/50 -
12-121438844-T-C HNF1A c.1769-24T>C - IntronicSNV - 9/9
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
12-125273667-T-C SCARB1 c.1203-1664A>G - IntronicSNV - 9/12
15-58742731-T-G LIPC c.88+18412T>G - IntronicSNV - 1/8
9-107651526-A-G ABCA1 c.67-50T>C - IntronicSNV - 2/49
1-109792705-C-A CELSR2 c.4C>A p.Arg2Arg Synonymous 1/34 -
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
7-72987354-C-T TBL2 c.599-54G>A - IntronicSNV - 4/6
8-19813667-T-G LPL c.1018+73T>G - IntronicSNV - 6/9
7-72877166-T-C BAZ1B c.3249+86A>G - IntronicSNV - 12/19