PMID: 26776183

INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
A Verma, JB Leader, SS Verma, A Frase, J Wallace, S Dudek, DR Lavage, CV Van Hout, FE Dewey, J Penn, A Lopez, JD Overton, DJ Carey, DH Ledbetter, HL Kirchner, MD Ritchie, SA Pendergrass
2016

156 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
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
22-44332570-G-A PNPLA3 c.758-361G>A - IntronicSNV - 5/8
7-73017005-A-G MLXIPL c.902-2980T>C - IntronicSNV - 7/16
16-57017319-G-A CETP c.1403G>A p.Arg468Gln Missense 15/16 -
11-116943354-A-C SIK3 c.273+25505T>G - intron_variant - 1/23
17-38146929-T-C PSMD3 c.981+479T>C - IntronicSNV - 6/11
5-76518442-G-A PDE8B c.339+11353G>A - IntronicSNV - 1/21
1-63090858-C-T DOCK7 c.1425+72G>A - IntronicSNV - 12/48
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
9-107658910-C-T ABCA1 c.66+6985G>A - IntronicSNV - 2/49
10-114756041-A-G TCF7L2 c.382-43743A>G - IntronicSNV - 3/13
1-62982891-C-A DOCK7 c.3844-3322G>T - IntronicSNV - 30/48
1-62982891-C-T DOCK7 c.3844-3322G>A - IntronicSNV - 30/48
5-76515824-A-T PDE8B c.339+8735A>T - IntronicSNV - 1/21
10-114756041-A-T TCF7L2 c.382-43743A>T - IntronicSNV - 3/13
1-63056112-G-A DOCK7 c.1683-3817C>T - IntronicSNV - 14/48
7-72904810-C-T BAZ1B c.694-1089G>A - IntronicSNV - 5/19
6-31704294-G-T CLIC1 c.1-217C>A - 5-UTRSNV 1/6 -
11-116639104-A-G BUD13 c.237+1741T>C - IntronicSNV - 2/9
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
6-31733466-T-C VWA7 c.2581A>G p.Thr861Ala Missense 17/17 -
1-63145439-G-A DOCK7 c.38+8459C>T - IntronicSNV - 1/48
22-44391686-G-A SAMM50 c.1365-532G>A - IntronicSNV - 14/14
17-38173143-G-A CSF3 c.447G>A p.Leu149Leu Synonymous 4/4 -
22-44368122-A-G SAMM50 c.329A>G p.Asp110Gly Missense 5/15 -
6-33546837-T-C BAK1 c.-32+965A>G - intron_variant - 1/5
11-116639104-A-T BUD13 c.237+1741T>A - IntronicSNV - 2/9
9-107658910-C-A ABCA1 c.66+6985G>T - IntronicSNV - 2/49
8-19816934-T-C LPL c.1139+43T>C - IntronicSNV - 7/9
10-114768783-G-A TCF7L2 c.382-31001G>A - IntronicSNV - 3/13
2-27743154-A-G GCKR c.1572+1350A>G - IntronicSNV - 17/18
1-109817192-A-G CELSR2 c.*521A>G - 3-UTRSNV 34/34 -
11-117091609-G-A PCSK7 c.1156-1135C>T - IntronicSNV - 9/16
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
8-19824563-T-C LPL c.*1742T>C - 3-UTRSNV 10/10 -
11-116707684-A-C APOA1 c.200+33T>G - IntronicSNV - 3/3
6-32059867-A-G TNXB c.2359-2711T>C - IntronicSNV - 4/43
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
5-76623421-T-G PDE8B c.591-1402T>G - IntronicSNV - 3/21
11-116707684-A-G APOA1 c.200+33T>C - IntronicSNV - 3/3
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
15-58726744-G-C LIPC c.88+2425G>C - IntronicSNV - 1/8
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
17-38153473-C-T PSMD3 c.1477-110C>T - IntronicSNV - 10/11
7-73012042-G-A MLXIPL c.1073C>T p.Ala358Val Missense 9/17 -
10-114732906-A-C TCF7L2 c.381+21540A>C - IntronicSNV - 3/13
10-114732906-A-G TCF7L2 c.381+21540A>G - IntronicSNV - 3/13
1-62905893-C-T USP1 c.170+185C>T - IntronicSNV - 2/8
1-109814880-C-T CELSR2 c.7927-20C>T - IntronicSNV - 28/33
7-72989390-A-G TBL2 c.131-547T>C - IntronicSNV - 1/6
1-63072265-A-T DOCK7 c.1682+12112T>A - IntronicSNV - 14/48
1-63072265-A-C DOCK7 c.1682+12112T>G - IntronicSNV - 14/48
10-114767771-G-A TCF7L2 c.382-32013G>A - IntronicSNV - 3/13
6-31725285-A-G MSH5 c.1015-657A>G - IntronicSNV - 12/24
6-31721033-G-A MSH5 c.813-45G>A - IntronicSNV - 10/24
11-116730638-A-G SIK3 c.2282-318T>C - intron_variant - 18/23
6-31704294-G-A CLIC1 c.1-217C>T - 5-UTRSNV 1/6 -
10-114748497-C-T TCF7L2 c.381+37131C>T - IntronicSNV - 3/13
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
9-107648652-C-T ABCA1 c.161-1803G>A - IntronicSNV - 3/49
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
5-76517982-G-C PDE8B c.339+10893G>C - IntronicSNV - 1/21
11-116764021-C-G SIK3 c.865+2948G>C - intron_variant - 6/23
1-62921586-T-C DOCK7 c.6288-459A>G - IntronicSNV - 48/48
9-100617583-T-C FOXE1 c.*265T>C - 3-UTRSNV 1/1 -
17-38179492-A-G MED24 c.2142T>C p.Ile714Ile Synonymous 20/26 -
6-31725230-G-A MSH5 c.1015-712G>A - IntronicSNV - 12/24
1-62980607-G-A DOCK7 c.3844-1038C>T - IntronicSNV - 30/48
6-31712196-G-A MSH5 c.647+120G>A - IntronicSNV - 7/24
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
8-19810787-C-A LPL c.430-34C>A - IntronicSNV - 3/9
8-19813180-G-A LPL c.776-172G>A - IntronicSNV - 5/9
5-76569611-C-A PDE8B c.340-38208C>A - IntronicSNV - 1/21
2-162876768-G-A DPP4 c.1215C>T p.Ile405Ile Synonymous 14/26 -
8-19811967-C-T LPL c.775+103C>T - IntronicSNV - 5/9
1-63103217-A-G DOCK7 c.819-943T>C - IntronicSNV - 7/48
10-114737050-C-T TCF7L2 c.381+25684C>T - IntronicSNV - 3/13
17-38141955-C-T PSMD3 c.412-873C>T - IntronicSNV - 2/11
11-117037361-A-G PAFAH1B2 c.412-776A>G - IntronicSNV - 5/5
6-31727474-A-G MSH5 c.1496-89A>G - IntronicSNV - 17/24
17-38143548-C-T PSMD3 c.549+583C>T - IntronicSNV - 3/11
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
7-72857049-A-G BAZ1B c.4094+6T>C - IntronicSNV - 18/19
9-100667599-C-T TRMO c.1067-325G>A - IntronicSNV - 4/4
11-116915742-C-T SIK3 c.273+53117G>A - intron_variant - 1/23
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
10-18122811-G-A MRC1 c.802+19G>A - IntronicSNV - 4/29
16-57007451-G-A CETP c.930+29G>A - IntronicSNV - 9/15
10-18122811-G-T MRC1 c.802+19G>T - IntronicSNV - 4/29
6-31733466-T-G VWA7 c.2581A>C p.Thr861Pro Missense 17/17 -
17-38128648-C-T GSDMA c.704-192C>T - IntronicSNV - 6/11
6-31636742-A-G CSNK2B c.292-132A>G - IntronicSNV - 4/6
11-117075566-C-T TAGLN c.*491C>T - IntergenicSNV 5/5 -
1-62912919-C-T USP1 c.1250-93C>T - IntronicSNV - 6/8
17-38175553-C-T MED24 c.*229G>A - 3-UTRSNV 26/26 -
7-73007943-G-A MLXIPL c.*252C>T - 3-UTRSNV 17/17 -
1-62916796-T-C USP1 c.*144T>C - 3-UTRSNV 9/9 -
22-44333694-T-G PNPLA3 c.979+542T>G - IntronicSNV - 6/8
11-116649135-G-A ZPR1 c.*506C>T - IntergenicSNV 14/14 -
8-19824492-T-C LPL c.*1671T>C - 3-UTRSNV 10/10 -
8-19824492-T-A LPL c.*1671T>A - 3-UTRSNV 10/10 -
6-31734345-G-T VWA7 c.2079C>A p.Ser693Ser Synonymous 14/17 -
6-31918860-A-G CFB c.1856-61A>G - IntronicSNV - 14/17
2-27812252-G-A ZNF512 c.89+5669G>A - IntronicSNV - 2/13
15-58730498-C-G LIPC c.88+6179C>G - IntronicSNV - 1/8
15-58730498-C-T LIPC c.88+6179C>T - IntronicSNV - 1/8
3-111658514-A-G PHLDB2 c.2157+37A>G - IntronicSNV - 6/16
2-27731212-T-C GCKR c.1422+94T>C - IntronicSNV - 16/18
7-72850178-T-C FZD9 c.*65T>C - 3-UTRSNV 1/1 -
7-73026378-C-T MLXIPL c.400+4023G>A - IntronicSNV - 2/16
7-73026378-C-A MLXIPL c.400+4023G>T - IntronicSNV - 2/16
11-116764021-C-T SIK3 c.865+2948G>A - intron_variant - 6/23
2-27801493-T-C C2orf16 c.2054T>C p.Val685Ala Missense 1/1 -
11-116621963-T-G BUD13 c.1767-2672A>C - IntronicSNV - 9/9
9-107648430-G-A ABCA1 c.161-1581C>T - IntronicSNV - 3/49
5-76541325-A-T PDE8B c.339+34236A>T - IntronicSNV - 1/21
10-114788815-T-C TCF7L2 c.382-10969T>C - IntronicSNV - 3/13
8-19819536-T-G LPL c.1323-90T>G - IntronicSNV - 8/9
11-117091609-G-C PCSK7 c.1156-1135C>G - IntronicSNV - 9/16
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
8-19819439-A-G LPL c.1323-187A>G - IntronicSNV - 8/9
5-76544942-A-G PDE8B c.339+37853A>G - IntronicSNV - 1/21
11-116722041-G-T SIK3 c.3512-2042C>A - intron_variant - 20/23
11-116722041-G-C SIK3 c.3512-2042C>G - intron_variant - 20/23
6-31715882-T-C MSH5 c.812+673T>C - IntronicSNV - 10/24
19-45373565-G-A NECTIN2 c.479-1545G>A - IntronicSNV - 2/5
8-19824667-C-T LPL c.*1846C>T - 3-UTRSNV 10/10 -
16-57002732-T-G CETP c.234-566T>G - IntronicSNV - 2/15
22-44328730-G-A PNPLA3 c.487-28G>A - IntronicSNV - 3/8
17-38175426-C-T MED24 c.*356G>A - 3-UTRSNV 26/26 -
11-116653296-C-T ZPR1 c.1093-336G>A - IntronicSNV - 11/13
11-116653296-C-G ZPR1 c.1093-336G>C - IntronicSNV - 11/13
10-114754088-T-C TCF7L2 c.381+42722T>C - IntronicSNV - 3/13
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
11-116650118-C-T ZPR1 c.1246-343G>A - IntronicSNV - 13/13
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
7-72911843-T-C BAZ1B c.571+984A>G - IntronicSNV - 4/19
1-109817838-T-C CELSR2 c.*1167T>C - 3-UTRSNV 34/34 -
1-63020816-C-A DOCK7 c.2596+680G>T - IntronicSNV - 21/48
17-38175462-C-T MED24 c.*320G>A - 3-UTRSNV 26/26 -
2-27812252-G-C ZNF512 c.89+5669G>C - IntronicSNV - 2/13
7-72856430-T-C BAZ1B c.*96A>G - IntronicSNV - 19/19
5-76541325-A-C PDE8B c.339+34236A>C - IntronicSNV - 1/21
5-76521868-T-C PDE8B c.339+14779T>C - IntronicSNV - 1/21
5-76521868-T-A PDE8B c.339+14779T>A - IntronicSNV - 1/21
17-38188844-A-G MED24 c.936+58T>C - IntronicSNV - 9/25
7-72987354-C-T TBL2 c.599-54G>A - IntronicSNV - 4/6
5-76515824-A-G PDE8B c.339+8735A>G - IntronicSNV - 1/21