PMID: 23940718

Properties of local interactions and their potential value in complementing genome-wide association studies.

PloS one
W Wei, A Gyenesei, CA Semple, CS Haley
2013

158 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-125031404-G-C NCOR2 c.-164-11247C>G - intron_variant - 1/48
12-125031404-G-A NCOR2 c.-164-11247C>T - intron_variant - 1/48
11-116652301-C-T ZPR1 c.1179+573G>A - IntronicSNV - 12/13
8-19821815-T-G LPL c.-1-1006T>G - IntronicSNV - 9/9
11-116634557-T-C BUD13 c.323-575A>G - IntronicSNV - 3/9
7-44248828-G-A YKT6 c.459+1031G>A - IntronicSNV - 5/6
16-72930589-C-G ZFHX3 c.3217-6728G>C - IntronicSNV - 3/9
2-169803674-C-T ABCB11 c.2344-2203G>A - IntronicSNV - 19/27
11-92493781-A-G FAT3 c.3670-1241A>G - IntronicSNV - 3/24
6-11745565-C-T ADTRP c.391-9649G>A - IntronicSNV - 3/5
7-44248828-G-C YKT6 c.459+1031G>C - IntronicSNV - 5/6
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
11-17330109-A-G NUCB2 c.380-1010A>G - IntronicSNV - 5/13
6-7118990-A-G RREB1 c.-285+10697A>G - intron_variant - 1/11
19-54962374-A-G LENG8 c.1-148A>G - IntronicSNV - 1/15
7-72987354-C-T TBL2 c.599-54G>A - IntronicSNV - 4/6
6-7118990-A-T RREB1 c.-285+10697A>T - intron_variant - 1/11
7-72877166-T-C BAZ1B c.3249+86A>G - IntronicSNV - 12/19
12-121435427-G-A HNF1A c.1460G>A p.Ser487Asn Missense 7/10 -
1-181759473-T-A CACNA1E c.5787-108T>A - IntronicSNV - 43/46
12-121431225-G-A HNF1A c.527-98G>A - IntronicSNV - 2/9
3-187960329-T-C LPP c.-10+17014T>C - intron_variant - 2/10
6-7143075-T-C RREB1 c.-284-33813T>C - intron_variant - 1/11
2-169814655-G-A ABCB11 c.2179-17C>T - IntronicSNV - 18/27
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
2-169814655-G-T ABCB11 c.2179-17C>A - IntronicSNV - 18/27
2-121595616-T-G GLI2 c.148+40572T>G - IntronicSNV - 2/13
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
2-21259562-T-C APOB c.693+410A>G - IntronicSNV - 6/28
12-124908813-A-C NCOR2 c.1329-1712T>G - IntronicSNV - 13/48
12-124908813-A-G NCOR2 c.1329-1712T>C - IntronicSNV - 13/48
2-169809672-G-T ABCB11 c.2343+4802C>A - IntronicSNV - 19/27
15-91812453-A-G SV2B c.1373+618A>G - IntronicSNV - 10/13
13-109425517-A-T MYO16 c.442-12466A>T - IntronicSNV - 4/34
3-157044222-G-A VEPH1 c.1736-9232C>T - IntronicSNV - 9/13
7-44211337-T-C GCK c.45+17171A>G - IntronicSNV - 1/9
11-16920570-T-C PLEKHA7 c.222-27841A>G - IntronicSNV - 3/22
2-169798171-A-G ABCB11 c.2610+2944T>C - IntronicSNV - 21/27
5-96126308-A-G ERAP1 c.1359T>C p.Ser453Ser Synonymous 9/20 -
11-7660921-C-T PPFIBP2 c.1237-42C>T - IntronicSNV - 14/23
1-234564255-C-T TARBP1 c.3060+627G>A - IntronicSNV - 17/29
10-94706633-C-T EXOC6 c.1311-1398C>T - IntronicSNV - 13/21
12-124076806-T-C TMED2 c.481+1810T>C - IntronicSNV - 3/3
4-110548148-T-C MCUB c.100-32019T>C - IntronicSNV - 1/7
2-169814347-A-G ABCB11 c.2343+127T>C - IntronicSNV - 19/27
2-169801488-A-G ABCB11 c.2344-17T>C - IntronicSNV - 19/27
2-170071775-A-C LRP2 c.5826+988T>G - IntronicSNV - 35/78
2-169814347-A-T ABCB11 c.2343+127T>A - IntronicSNV - 19/27
22-33204334-C-T TIMP3 c.121+6226C>T - IntronicSNV - 1/4
16-56977898-G-A HERPUD1 c.*696G>A - IntergenicSNV 8/8 -
19-11227554-C-T LDLR c.1725C>T p.Leu575Leu Synonymous 12/18 -
10-18932172-A-G NSUN6 c.232-688T>C - IntronicSNV - 2/10
1-109814880-C-T CELSR2 c.7927-20C>T - IntronicSNV - 28/33
2-169797060-A-G ABCB11 c.2610+4055T>C - IntronicSNV - 21/27
10-18563985-G-A CACNB2 c.48+13739G>A - IntronicSNV - 1/12
2-169794431-C-T ABCB11 c.2611-1488G>A - IntronicSNV - 21/27
11-10302016-C-G SBF2 c.55+13546G>C - IntronicSNV - 1/39
15-58742418-G-A LIPC c.88+18099G>A - IntronicSNV - 1/8
19-11159096-G-T SMARCA4 c.4424+6860G>T - IntronicSNV - 30/34
2-169798439-T-A ABCB11 c.2610+2676A>T - IntronicSNV - 21/27
2-169798439-T-C ABCB11 c.2610+2676A>G - IntronicSNV - 21/27
2-211469123-A-G CPS1 c.1837-703A>G - intron_variant - 17/38
8-18395945-G-T PSD3 c.2929-2477C>A - IntronicSNV - 15/15
11-10302016-C-T SBF2 c.55+13546G>A - IntronicSNV - 1/39
19-19740729-C-A GMIP c.*43G>T - 3-UTRSNV 21/21 -
8-17601560-C-A MTUS1 c.2092-252G>T - IntronicSNV - 2/14
19-19740729-C-G GMIP c.*43G>C - 3-UTRSNV 21/21 -
11-17459118-A-T ABCC8 c.1630+5149T>A - IntronicSNV - 10/38
15-58741177-C-T LIPC c.88+16858C>T - IntronicSNV - 1/8
2-169792421-A-G ABCB11 c.2814+319T>C - IntronicSNV - 22/27
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
1-220984364-C-T MARC1 c.888-2270C>T - IntronicSNV - 6/6
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
2-169807482-C-G ABCB11 c.2344-6011G>C - IntronicSNV - 19/27
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
1-208060464-G-A CD34 c.*985C>T - 3-UTRSNV 8/8 -
15-80724489-A-G ARNT2 c.32-18732A>G - IntronicSNV - 1/18
19-11159525-G-A SMARCA4 c.4424+7289G>A - IntronicSNV - 30/34
4-187077206-A-G FAM149A c.436A>G p.Lys146Glu Missense 7/14 -
8-17507299-A-G MTUS1 c.3501+56T>C - IntronicSNV - 13/14
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
2-169811224-T-C ABCB11 c.2343+3250A>G - IntronicSNV - 19/27
16-57008508-A-T CETP c.931-505A>T - IntronicSNV - 9/15
16-57008508-A-C CETP c.931-505A>C - IntronicSNV - 9/15
21-44479701-A-G CBS c.1146-288T>C - IntronicSNV - 12/16
7-15666171-A-T MEOX2 c.690+200T>A - IntronicSNV - 2/2
2-169794283-G-A ABCB11 c.2611-1340C>T - IntronicSNV - 21/27
2-169791438-A-G ABCB11 c.3056+256T>C - IntronicSNV - 23/27
7-151043272-G-T NUB1 c.189+720G>T - IntronicSNV - 2/14
5-53287548-C-G ARL15 c.463-105005G>C - IntronicSNV - 4/4
2-211517423-T-C CPS1 c.3481-1326T>C - intron_variant - 29/38
2-211517423-T-G CPS1 c.3481-1326T>G - intron_variant - 29/38
13-109425517-A-G MYO16 c.442-12466A>G - IntronicSNV - 4/34
13-109425517-A-C MYO16 c.442-12466A>C - IntronicSNV - 4/34
11-8433864-G-A STK33 c.1344+1178C>T - IntronicSNV - 13/13
12-125873274-C-T TMEM132B c.945-26803C>T - IntronicSNV - 2/8
6-11008649-G-A ELOVL2 c.67+2330C>T - IntronicSNV - 2/7
6-31107648-C-T PSORS1C1 c.398C>T p.Pro133Leu Missense 6/6 -
2-21265518-A-T APOB c.122-170T>A - IntronicSNV - 2/28
13-28966067-G-A FLT1 c.1661-1826C>T - IntronicSNV - 12/29
8-19820433-T-C LPL c.1427+703T>C - IntronicSNV - 9/9
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 -
16-57012379-T-G CETP c.1146+212T>G - IntronicSNV - 11/15
2-169801488-A-T ABCB11 c.2344-17T>A - IntronicSNV - 19/27
2-169331384-G-C CERS6 c.170+18256G>C - IntronicSNV - 1/9
4-111409925-A-G ENPEP c.786+87A>G - IntronicSNV - 2/19
15-58741177-C-G LIPC c.88+16858C>G - IntronicSNV - 1/8
1-154418879-C-T IL6R c.950-1722C>T - IntronicSNV - 6/9
12-121423956-C-T HNF1A c.327-2680C>T - IntronicSNV - 1/9
11-116703640-G-C APOC3 c.*40G>C - 3-UTRSNV 4/4 -
13-109557930-G-T MYO16 c.1712-4421G>T - IntronicSNV - 15/34
12-121622196-A-G P2RX7 c.1379A>G p.Gln460Arg Missense 13/13 -
2-207453076-G-A ADAM23 c.1852+198G>A - IntronicSNV - 20/25
11-92706944-A-G MTNR1B c.223+3830A>G - IntronicSNV - 1/1
14-73017126-T-C RGS6 c.1422+10324T>C - IntronicSNV - 17/17
9-36640907-C-T MELK c.835-2087C>T - IntronicSNV - 10/17
19-19628037-G-A NDUFA13 c.94+896G>A - IntronicSNV - 1/4
10-105207505-C-T CALHM2 c.556-180G>A - IntronicSNV - 3/3
19-54646290-T-C CNOT3 c.1-425T>C - IntronicSNV - 1/17
22-34013807-C-T LARGE1 c.491+8421G>A - IntronicSNV - 4/14
12-124837943-A-C NCOR2 c.3693+696T>G - IntronicSNV - 29/48
10-95169056-C-T MYOF c.600+274G>A - IntronicSNV - 6/53
16-57011185-G-A CETP c.982-818G>A - IntronicSNV - 10/15
11-16876618-G-A PLEKHA7 c.418-78C>T - IntronicSNV - 5/22
12-121435587-G-A HNF1A c.1501+119G>A - IntronicSNV - 7/9
11-116632500-C-T BUD13 c.1036+769G>A - IntronicSNV - 4/9
19-11159525-G-T SMARCA4 c.4424+7289G>T - IntronicSNV - 30/34
11-92358811-G-T FAT3 c.3608-71739G>T - IntronicSNV - 2/24
12-121435587-G-T HNF1A c.1501+119G>T - IntronicSNV - 7/9
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
15-80395920-A-G ZFAND6 c.-18+5000A>G - intron_variant - 2/6
11-116628401-T-C BUD13 c.1684+81A>G - IntronicSNV - 8/9
8-19819536-T-G LPL c.1323-90T>G - IntronicSNV - 8/9
12-121442670-T-C C12orf43 c.452+136A>G - IntronicSNV - 5/5
2-169813353-C-T ABCB11 c.2343+1121G>A - IntronicSNV - 19/27
11-116657561-C-T ZPR1 c.424+124G>A - IntronicSNV - 3/13
8-18395945-G-A PSD3 c.2929-2477C>T - IntronicSNV - 15/15
2-44981119-T-G CAMKMT c.699-75T>G - IntronicSNV - 8/10
12-121442670-T-A C12orf43 c.452+136A>T - IntronicSNV - 5/5
15-61153551-T-C RORA c.167-182666A>G - IntronicSNV - 1/10
5-96126308-A-T ERAP1 c.1359T>A p.Ser453Arg Missense 9/20 -
1-235647050-C-T B3GALNT2 c.555+588G>A - IntronicSNV - 4/11
16-57005301-C-T CETP c.658+8C>T - IntronicSNV - 7/15
1-208245009-T-C PLXNA2 c.2586+7596A>G - IntronicSNV - 12/31
3-157044222-G-T VEPH1 c.1736-9232C>A - IntronicSNV - 9/13
2-142350130-G-A LRP1B c.206-112028C>T - IntronicSNV - 2/90
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
7-15666171-A-G MEOX2 c.690+200T>C - IntronicSNV - 2/2
12-121438844-T-C HNF1A c.1769-24T>C - IntronicSNV - 9/9
8-18531247-C-A PSD3 c.2173-18052G>T - IntronicSNV - 9/15
19-39593832-C-T ACP7 c.1113+1655C>T - IntronicSNV - 11/12
19-48551870-C-T PLA2G4C c.1611-225G>A - IntronicSNV - 16/16