PMID: 27784733

Comprehensive Analysis of Established Dyslipidemia-Associated Loci in the Diabetes Prevention Program.

Circulation. Cardiovascular genetics
TV Varga, AH Winters, KA Jablonski, ES Horton, P Khare-Ranade, WC Knowler, SM Marcovina, F Renström, KE Watson, R Goldberg, JC Florez, TI Pollin, PW Franks
2016-12

171 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
19-7224431-G-A INSR c.653-39783C>T - IntronicSNV - 2/21
19-33899065-G-A PEPD c.818+3513C>T - IntronicSNV - 11/14
19-8431581-G-A ANGPTL4 c.547+378G>A - IntronicSNV - 3/6
19-8431581-G-C ANGPTL4 c.547+378G>C - IntronicSNV - 3/6
20-39713869-G-A TOP1 c.614+661G>A - IntronicSNV - 8/20
10-46013277-A-C MARCH8 c.102+15281T>G - IntronicSNV - 2/6
7-116358044-A-T MET c.1201-13678A>T - IntronicSNV - 2/20
7-116358044-A-G MET c.1201-13678A>G - IntronicSNV - 2/20
11-47362339-G-A MYBPC3 c.1927+215C>T - IntronicSNV - 20/34
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
8-10683929-G-C PINX1 c.302-175C>G - IntronicSNV - 4/6
8-10683929-G-T PINX1 c.302-175C>A - IntronicSNV - 4/6
12-110032415-C-T MVK c.886-418C>T - IntronicSNV - 9/10
12-110019233-G-A MVK c.405G>A p.Ser135Ser Synonymous 5/11 -
12-124475156-A-G ZNF664 c.-661+2471A>G - intron_variant - 3/4
2-169830155-G-A ABCB11 c.1434+70C>T - IntronicSNV - 13/27
11-126241979-G-A ST3GAL4 c.-61+15782G>A - intron_variant - 1/10
22-38546033-T-A PLA2G6 c.210-4373A>T - IntronicSNV - 2/15
1-230287128-T-G GALNT2 c.127-26836T>G - IntronicSNV - 1/15
22-38546033-T-C PLA2G6 c.210-4373A>G - IntronicSNV - 2/15
6-32409530-G-A HLA-DRA c.83-695G>A - IntronicSNV - 1/4
10-46013277-A-T MARCH8 c.102+15281T>A - IntronicSNV - 2/6
5-156475398-T-G HAVCR1 c.781+651A>C - IntronicSNV - 4/7
3-52532118-A-T STAB1 c.78+2611A>T - IntronicSNV - 1/68
3-32533010-C-T CMTM6 c.315+192G>A - IntronicSNV - 2/3
22-30378703-C-T MTMR3 c.210+3662C>T - IntronicSNV - 5/19
2-136092061-C-A ZRANB3 c.677+11059G>T - IntronicSNV - 6/20
3-50129399-C-T RBM5 c.18-77C>T - IntronicSNV - 2/24
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
11-65391317-G-A PCNX3 c.2512-83G>A - IntronicSNV - 12/34
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
11-47249294-G-A DDB2 c.457-5071G>A - IntronicSNV - 3/9
3-47061183-G-A SETD2 c.7431+67C>T - IntronicSNV - 19/20
1-62912919-C-T USP1 c.1250-93C>T - IntronicSNV - 6/8
3-47061183-G-C SETD2 c.7431+67C>G - IntronicSNV - 19/20
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
11-47370607-T-G MYBPC3 c.655-515A>C - IntronicSNV - 5/34
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
1-230299949-T-C GALNT2 c.127-14015T>C - IntronicSNV - 1/15
7-17919258-G-T SNX13 c.441-3845C>A - IntronicSNV - 5/25
7-17919258-G-A SNX13 c.441-3845C>T - IntronicSNV - 5/25
3-12674199-T-C RAF1 c.1-13979A>G - IntronicSNV - 1/16
7-6449272-A-G DAGLB c.*196T>C - 3-UTRSNV 15/15 -
11-47460306-A-G RAPSN c.1143T>C p.Pro381Pro Synonymous 7/8 -
7-1083777-A-G C7orf50 c.130-33998T>C - IntronicSNV - 2/4
3-52532118-A-G STAB1 c.78+2611A>G - IntronicSNV - 1/68
11-18632984-T-C SPTY2D1 c.1964+40A>G - IntronicSNV - 5/5
11-116752163-T-C SIK3 c.866-4405A>G - intron_variant - 6/23
12-109938857-A-G UBE3B c.1119-319A>G - IntronicSNV - 12/27
5-53298025-G-A ARL15 c.462+111007C>T - IntronicSNV - 4/4
2-136092061-C-G ZRANB3 c.677+11059G>C - IntronicSNV - 6/20
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
12-110033270-G-C MVK c.1039+284G>C - IntronicSNV - 10/10
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
9-136149399-G-A ABO c.28+1179C>T - IntronicSNV - 1/7
5-74773420-T-C COL4A3BP c.232-18414A>G - IntronicSNV - 2/17
19-19645645-C-T YJEFN3 c.319-198C>T - IntronicSNV - 3/6
5-74773420-T-A COL4A3BP c.232-18414A>T - IntronicSNV - 2/17
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
15-42683787-G-A CAPN3 c.946-1050G>A - IntronicSNV - 6/23
5-156376703-A-T TIMD4 c.719T>A p.Val240Asp Missense 4/9 -
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
22-35711098-A-G TOM1 c.53-2772A>G - IntronicSNV - 1/14
8-145022657-G-A PLEC c.194-9797C>T - IntronicSNV - 2/32
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
8-145022657-G-T PLEC c.194-9797C>A - IntronicSNV - 2/32
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
8-116599199-T-C TRPS1 c.2700+29A>G - IntronicSNV - 5/6
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
3-119560606-T-A GSK3B c.1195+1496A>T - IntronicSNV - 10/10
3-119560606-T-C GSK3B c.1195+1496A>G - IntronicSNV - 10/10
2-234679384-C-T UGT1A1 c.1305-1524C>T - IntronicSNV - 4/4
16-67976320-A-T LCAT c.694T>A p.Ser232Thr Missense 5/6 -
16-67976320-A-C LCAT c.694T>G p.Ser232Ala Missense 5/6 -
1-93034023-G-T EVI5 c.2023-4729C>A - IntronicSNV - 16/17
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
1-230415148-G-A GALNT2 c.1660G>A p.Val554Met Missense 16/16 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
11-48120936-G-A PTPRJ c.97-10674G>A - IntronicSNV - 1/8
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
3-58381287-G-A PXK c.721-98G>A - IntronicSNV - 8/17
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -
3-11400249-C-T ATG7 c.1479+163C>T - IntronicSNV - 13/18
1-230398445-G-A GALNT2 c.1229+34G>A - IntronicSNV - 12/15
16-15129940-C-T PDXDC1 c.2175C>T p.His725His Synonymous 23/23 -
19-19721722-G-A PBX4 c.119+7598C>T - IntronicSNV - 1/7
3-11400249-C-A ATG7 c.1479+163C>A - IntronicSNV - 13/18
16-15129940-C-A PDXDC1 c.2175C>A p.His725Gln Missense 23/23 -
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
19-19358672-A-C NCAN c.3638-837A>C - IntronicSNV - 13/14
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
1-25892880-T-A LDLRAP1 c.783-459T>A - IntronicSNV - 8/8
1-25892880-T-G LDLRAP1 c.783-459T>G - IntronicSNV - 8/8
8-19820405-G-A LPL c.1427+675G>A - IntronicSNV - 9/9
11-118486067-T-C PHLDB1 c.184+670T>C - IntronicSNV - 4/23
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
19-49206417-A-G FUT2 c.204A>G p.Ala68Ala Synonymous 2/2 -
2-44066247-G-C ABCG8 c.55G>C p.Asp19His Missense 1/13 -
20-44585420-A-G ZNF335 c.2442+805T>C - IntronicSNV - 17/27
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
1-93034023-G-C EVI5 c.2023-4729C>G - IntronicSNV - 16/17
5-156479204-C-T HAVCR1 c.673+168G>A - IntronicSNV - 3/7
19-52324216-G-C FPR3 c.1-2786G>C - IntronicSNV - 1/1
11-47380593-G-A SPI1 c.331-36C>T - IntronicSNV - 3/4
19-19336608-C-T NCAN c.1072+529C>T - IntronicSNV - 6/14
11-47370607-T-C MYBPC3 c.655-515A>G - IntronicSNV - 5/34
19-52324216-G-A FPR3 c.1-2786G>A - IntronicSNV - 1/1
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
19-19645645-C-A YJEFN3 c.319-198C>A - IntronicSNV - 3/6
4-3473139-A-G DOK7 c.101-1994A>G - IntronicSNV - 2/6
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
17-66882466-T-G ABCA8 c.3309+692A>C - IntronicSNV - 24/37
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
17-45438952-C-T EFCAB13 c.805+65C>T - IntronicSNV - 10/24
22-46627603-C-T PPARA c.712-86C>T - IntronicSNV - 6/7
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
16-67977382-T-C LCAT c.155-267A>G - IntronicSNV - 1/5
2-21231524-G-T APOB c.8216C>A p.Pro2739Gln Missense 26/29 -
2-44066247-G-A ABCG8 c.55G>A p.Asp19Asn Missense 1/13 -
5-156376703-A-G TIMD4 c.719T>C p.Val240Ala Missense 4/9 -
1-220970593-T-C MARC1 c.612+446T>C - IntronicSNV - 3/6
1-220970593-T-G MARC1 c.612+446T>G - IntronicSNV - 3/6
15-44219607-G-A FRMD5 c.103-3100C>T - IntronicSNV - 1/13
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
19-19329924-C-T NCAN c.274C>T p.Pro92Ser Missense 3/15 -
19-19329924-C-A NCAN c.274C>A p.Pro92Thr Missense 3/15 -
13-32953388-T-C BRCA2 c.8755-66T>C - IntronicSNV - 21/26
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
1-23766233-C-T ASAP3 c.945-510G>A - IntronicSNV - 10/24
8-19824563-T-C LPL c.*1742T>C - 3-UTRSNV 10/10 -
2-203532304-A-G FAM117B c.602-28300A>G - IntronicSNV - 1/7
11-47237359-C-T DDB2 c.128-528C>T - IntronicSNV - 1/9
12-124464836-G-T ZNF664 c.-757+6269G>T - intron_variant - 2/4
1-156700651-T-G RRNAD1 c.112-1132T>G - IntronicSNV - 1/7
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
3-136300927-G-A STAG1 c.298-13224C>T - IntronicSNV - 4/33
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
1-230279410-G-A GALNT2 c.127-34554G>A - IntronicSNV - 1/15
4-89741269-G-C FAM13A c.29+2858C>G - IntronicSNV - 1/17
4-89741269-G-A FAM13A c.29+2858C>T - IntronicSNV - 1/17
6-32412435-G-A HLA-DRA c.*18G>A - 3_prime_UTR_variant 5/5 -
12-9082581-A-G PHC1 c.613-450A>G - IntronicSNV - 6/14
7-72989390-A-G TBL2 c.131-547T>C - IntronicSNV - 1/6
3-132163200-G-T DNAJC13 c.69-2119G>T - IntronicSNV - 2/55
19-19746151-G-C GMIP c.1560+73C>G - IntronicSNV - 15/20
5-156383422-A-G TIMD4 c.59-1655T>C - IntronicSNV - 1/8
5-156383422-A-C TIMD4 c.59-1655T>G - IntronicSNV - 1/8
10-5254847-A-G AKR1C4 c.681-110A>G - IntronicSNV - 6/8
19-19746151-G-T GMIP c.1560+73C>A - IntronicSNV - 15/20
12-123775127-G-A SBNO1 c.*5328C>T - 3-UTRSNV 32/32 -
2-63149557-G-A EHBP1 c.1291-20296G>A - IntronicSNV - 11/24