PMID: 26130488

Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations.

European journal of human genetics : EJHG
X Wang, CY Cheng, J Liao, X Sim, J Liu, KS Chia, ES Tai, P Little, CC Khor, T Aung, TY Wong, YY Teo
2016-04

160 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
4-55124460-C-T PDGFRA c.1-476C>T - IntronicSNV - 1/22
10-69991853-A-G ATOH7 c.1-419T>C - 5-UTRSNV 1/1 -
15-44245931-A-T FRMD5 c.103-29424T>A - IntronicSNV - 1/13
7-72856430-T-C BAZ1B c.*96A>G - IntronicSNV - 19/19
3-67531388-G-A SUCLG2 c.1062+14834C>T - IntronicSNV - 9/10
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
7-72987354-C-T TBL2 c.599-54G>A - IntronicSNV - 4/6
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
1-36567343-A-G COL8A2 c.1-1500T>C - IntergenicSNV - 2/3
16-67708897-A-G GFOD2 c.*161T>C - 3-UTRSNV 3/3 -
2-21241505-A-G APOB c.3121+359T>C - IntronicSNV - 20/28
19-45403412-C-T TOMM40 c.644-575C>T - IntronicSNV - 6/9
19-11238473-A-T LDLR c.2312-211A>T - IntronicSNV - 15/17
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
19-11238473-A-C LDLR c.2312-211A>C - IntronicSNV - 15/17
19-11238473-A-G LDLR c.2312-211A>G - IntronicSNV - 15/17
11-74168411-A-G KCNE3 c.198T>C p.Phe66Phe Synonymous 3/3 -
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
2-27743154-A-G GCKR c.1572+1350A>G - IntronicSNV - 17/18
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
19-11350488-C-T ANGPTL8 c.175C>T p.Arg59Trp Missense 1/4 -
11-116750874-A-C SIK3 c.866-3116T>G - intron_variant - 6/23
11-116750874-A-G SIK3 c.866-3116T>C - intron_variant - 6/23
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
2-27598097-T-C SNX17 c.774+77T>C - IntronicSNV - 9/14
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
16-57007610-G-A CETP c.930+188G>A - IntronicSNV - 9/15
12-123796238-C-T SBNO1 c.3218-562G>A - IntronicSNV - 24/31
7-72129667-C-T TYW1B c.1506+30010G>A - intron_variant - 12/14
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
9-107569337-T-C ABCA1 c.4275-626A>G - IntronicSNV - 30/49
15-58726744-G-C LIPC c.88+2425G>C - IntronicSNV - 1/8
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
X-66942625-G-A AR c.2450-44G>A - IntronicSNV - 6/7
6-116312893-A-T FRK c.466+12147T>A - IntronicSNV - 2/7
9-137539907-A-C COL5A1 c.109+5765A>C - IntronicSNV - 1/65
6-32412435-G-A HLA-DRA c.*18G>A - 3_prime_UTR_variant 5/5 -
1-230304988-A-G GALNT2 c.127-8976A>G - IntronicSNV - 1/15
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
4-55139771-T-C PDGFRA c.1432T>C p.Ser478Pro Missense 10/23 -
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
9-107620835-G-A ABCA1 c.688C>T p.Arg230Cys Missense 7/50 -
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
22-37906262-C-T CARD10 c.866G>A p.Arg289Gln Missense 4/20 -
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
8-10683929-G-C PINX1 c.302-175C>G - IntronicSNV - 4/6
8-10683929-G-T PINX1 c.302-175C>A - IntronicSNV - 4/6
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
11-116652423-G-C ZPR1 c.1179+451C>G - 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
9-15296034-C-A TTC39B c.240+11048G>T - IntronicSNV - 1/19
2-71133014-G-A VAX2 c.247+5016G>A - IntronicSNV - 1/2
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
1-62996838-C-G DOCK7 c.3519-1721G>C - IntronicSNV - 28/48
19-45376284-C-T NECTIN2 c.775+878C>T - IntronicSNV - 3/5
2-44074431-C-A ABCG8 c.322+981C>A - IntronicSNV - 3/12
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
9-107562804-T-C ABCA1 c.4760A>G p.Lys1587Arg Missense 35/50 -
1-28262409-A-T SMPDL3B c.61+654A>T - IntronicSNV - 1/7
1-28262409-A-G SMPDL3B c.61+654A>G - IntronicSNV - 1/7
22-38546033-T-A PLA2G6 c.210-4373A>T - IntronicSNV - 2/15
22-38546033-T-C PLA2G6 c.210-4373A>G - IntronicSNV - 2/15
15-101721892-T-C CHSY1 c.817-2707A>G - IntronicSNV - 2/2
11-61571348-C-T FADS1 c.1054-109G>A - IntronicSNV - 7/11
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
15-40322552-G-T EIF2AK4 c.4562-8G>T - IntronicSNV - 34/38
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
12-113409176-G-A OAS3 c.*1398G>A - 3-UTRSNV 16/16 -
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
2-20903015-T-C LDAH c.704-1603A>G - IntronicSNV - 5/6
17-45425115-G-T EFCAB13 c.518-59G>T - IntronicSNV - 8/24
17-45425115-G-A EFCAB13 c.518-59G>A - IntronicSNV - 8/24
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
9-137568051-C-T COL5A1 c.110-14707C>T - IntronicSNV - 1/65
8-11045161-G-A XKR6 c.764+12924C>T - IntronicSNV - 1/2
1-36555758-C-T ADPRHL2 c.211+1042C>T - IntronicSNV - 1/5
8-19819328-T-C LPL c.1323-298T>C - IntronicSNV - 8/9
9-107564846-T-C ABCA1 c.4593-406A>G - IntronicSNV - 33/49
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
16-57012379-T-G CETP c.1146+212T>G - IntronicSNV - 11/15
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
1-220973563-C-T MARC1 c.753+2207C>T - IntronicSNV - 4/6
8-11045161-G-T XKR6 c.764+12924C>A - IntronicSNV - 1/2
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
11-96023214-C-T MAML2 c.513+51333G>A - IntronicSNV - 1/4
1-62996838-C-T DOCK7 c.3519-1721G>A - IntronicSNV - 28/48
9-107653426-G-A ABCA1 c.67-1950C>T - IntronicSNV - 2/49
11-116654435-C-T ZPR1 c.892-100G>A - IntronicSNV - 9/13
5-13798559-A-C DNAH5 c.7888-4392T>G - IntronicSNV - 47/78
1-207875175-G-T CR1L c.1328+212G>T - IntronicSNV - 9/11
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
11-61597212-C-T FADS2 c.207+1143C>T - IntronicSNV - 1/11
1-207875175-G-C CR1L c.1328+212G>C - IntronicSNV - 9/11
19-45376284-C-G NECTIN2 c.775+878C>G - IntronicSNV - 3/5
12-124460167-G-T ZNF664 c.-757+1600G>T - intron_variant - 2/4
1-230304988-A-C GALNT2 c.127-8976A>C - IntronicSNV - 1/15
5-53298025-G-A ARL15 c.462+111007C>T - IntronicSNV - 4/4
11-116732512-G-T SIK3 c.2171+45C>A - intron_variant - 17/23
11-61571348-C-G FADS1 c.1054-109G>C - IntronicSNV - 7/11
8-116599199-T-C TRPS1 c.2700+29A>G - IntronicSNV - 5/6
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
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
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
19-45395266-G-A TOMM40 c.274+320G>A - IntronicSNV - 2/9
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
8-19819439-A-G LPL c.1323-187A>G - IntronicSNV - 8/9
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
4-120187611-C-T USP53 c.973-864C>T - IntronicSNV - 11/17
15-42683787-G-A CAPN3 c.946-1050G>A - IntronicSNV - 6/23
1-36571920-G-A COL8A2 c.1-6077C>T - IntergenicSNV - 2/3
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
1-11171226-C-T MTOR c.7367-1440G>A - IntronicSNV - 54/57
11-117531731-C-T DSCAML1 c.511+115775G>A - intron_variant - 3/32
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
15-27507773-C-T GABRG3 c.271-64183C>T - IntronicSNV - 3/5
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
7-29921524-G-C WIPF3 c.356-1942G>C - IntronicSNV - 4/8
1-109817838-T-C CELSR2 c.*1167T>C - 3-UTRSNV 34/34 -
7-29921524-G-T WIPF3 c.356-1942G>T - IntronicSNV - 4/8
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
1-55625548-C-T USP24 c.994-190G>A - IntronicSNV - 8/67
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
19-11342703-A-G DOCK6 c.2718+1176T>C - IntronicSNV - 22/47
7-29921524-G-A WIPF3 c.356-1942G>A - IntronicSNV - 4/8
17-66875294-C-G ABCA8 c.3919-1474G>C - IntronicSNV - 30/37
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -