PMID: 17554300

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

Nature
2007-06-07

265 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-57977738-C-T KIF5A c.*776C>T - IntronicSNV 29/29 -
3-178502029-C-T KCNMB2 c.1-23169C>T - IntronicSNV - 1/4
9-112070162-G-A EPB41L4B c.306+12259C>T - IntronicSNV - 1/15
9-112070162-G-T EPB41L4B c.306+12259C>A - IntronicSNV - 1/15
19-44613661-A-C ZNF224 c.*1224A>C - IntergenicSNV 6/6 -
19-44613661-A-T ZNF224 c.*1224A>T - IntergenicSNV 6/6 -
X-110512005-T-C CAPN6 c.-16+1594A>G - intron_variant - 1/12
7-90719298-T-A CDK14 c.1100+10503T>A - IntronicSNV - 11/13
8-77736646-T-A ZFHX4 c.3326-8928T>A - IntronicSNV - 4/10
1-67675516-C-T IL23R c.798+2778C>T - IntronicSNV - 6/10
1-17655407-C-G PADI4 c.93-2057C>G - IntronicSNV - 1/15
5-109044558-C-A MAN2A1 c.136-4663C>A - IntronicSNV - 1/21
7-147593314-T-G CNTNAP2 c.2099-7343T>G - IntronicSNV - 13/23
3-21698690-A-G ZNF385D c.165+7688T>C - IntronicSNV - 2/7
1-180150719-T-G QSOX1 c.607-590T>G - IntronicSNV - 5/11
1-169519112-C-T F5 c.1538G>A p.Arg513Lys Missense 10/25 -
6-55218271-G-T GFRAL c.701+1890G>T - IntronicSNV - 5/8
3-178502029-C-A KCNMB2 c.1-23169C>A - IntronicSNV - 1/4
4-2906453-T-G ADD1 c.1162-38T>G - IntronicSNV - 9/14
3-65813197-A-G MAGI1 c.314-205434T>C - IntronicSNV - 1/22
17-40498273-T-C STAT3 c.273+314A>G - IntronicSNV - 3/23
17-40498273-T-A STAT3 c.273+314A>T - IntronicSNV - 3/23
1-111434711-C-T CD53 c.64-256C>T - IntronicSNV - 2/7
3-150811294-C-T MED12L c.99+6482C>T - IntronicSNV - 1/42
7-80485976-C-A SEMA3C c.104-27915G>T - IntronicSNV - 2/17
2-43587504-C-T THADA c.4228-16128G>A - IntronicSNV - 29/37
9-117558703-C-T TNFSF15 c.211-2855G>A - IntronicSNV - 1/3
19-58711108-C-G ZNF274 c.257-6979C>G - IntronicSNV - 4/8
3-32330686-C-T CMTM8 c.147+50075C>T - IntronicSNV - 1/3
1-45430218-C-T EIF2B3 c.294+13769G>A - IntronicSNV - 3/11
2-45669349-T-C SRBD1 c.2050-22316A>G - IntronicSNV - 16/20
1-157666336-C-G FCRL3 c.845-219G>C - IntronicSNV - 6/14
1-231132597-G-C ARV1 c.674-270G>C - IntronicSNV - 4/5
1-231132597-G-A ARV1 c.674-270G>A - IntronicSNV - 4/5
1-51174330-C-T FAF1 c.552-2767G>A - IntronicSNV - 6/18
3-65473862-T-C MAGI1 c.550+5325A>G - IntronicSNV - 3/22
16-50739582-C-G NOD2 c.541-2184C>G - IntronicSNV - 2/11
6-18186697-A-C KDM1B c.573+656A>C - IntronicSNV - 8/17
20-62337406-A-C ARFRP1 c.264+303T>G - IntronicSNV - 4/6
6-25419318-A-G CARMIL1 c.139-1024A>G - IntronicSNV - 2/36
5-65968868-T-C MAST4 c.363+76022T>C - IntronicSNV - 1/28
12-7014607-A-G LRRC23 c.1-191A>G - IntronicSNV - 1/6
15-87145842-A-G AGBL1 c.3057+46326A>G - intron_variant - 22/24
6-117744645-A-T ROS1 c.123+2052T>A - IntronicSNV - 1/42
12-118028661-A-G KSR2 c.1172-8497T>C - intron_variant - 5/19
4-38874802-A-G FAM114A1 c.-9+4635A>G - intron_variant - 2/14
2-79772054-T-C CTNNA2 c.-6+31721T>C - intron_variant - 1/17
11-117358313-C-T DSCAML1 c.2360-5436G>A - intron_variant - 11/32
1-227819514-G-A ZNF678 c.124-14731G>A - IntronicSNV - 2/3
15-79080234-C-T ADAMTS7 c.1322+339G>A - IntronicSNV - 8/23
2-161144055-G-A RBMS1 c.641-460C>T - IntronicSNV - 6/13
20-62337406-A-G ARFRP1 c.264+303T>C - IntronicSNV - 4/6
12-18575554-T-C PIK3C2G c.2287-1325T>C - IntronicSNV - 16/31
19-1123378-A-C SBNO2 c.628+155T>G - IntronicSNV - 7/31
1-3591448-G-C TP73 c.1-7482G>C - IntronicSNV - 1/13
6-20717255-T-C CDKAL1 c.372-22495T>C - IntronicSNV - 5/15
6-30122575-C-T TRIM10 c.929-312G>A - IntronicSNV - 6/6
15-78884227-T-A CHRNA5 c.1246-1207T>A - IntronicSNV - 5/5
6-151252985-G-A MTHFD1L c.1257-4955G>A - IntronicSNV - 11/27
1-230847556-C-A AGT c.1-960G>T - IntronicSNV - 1/4
15-33167529-C-G FMN1 c.3166+12844G>C - IntronicSNV - 12/16
3-148550124-T-G CPB1 c.148-2161T>G - IntronicSNV - 2/10
10-44068558-A-C ZNF239 c.-216+527T>G - intron_variant - 2/3
1-19693128-C-A CAPZB c.330-9071G>T - IntronicSNV - 4/9
14-50164452-G-A KLHDC1 c.96+4444G>A - IntronicSNV - 1/12
17-38651447-G-A TNS4 c.439+792C>T - IntronicSNV - 2/12
1-223309213-C-G TLR5 c.-352-1007G>C - intron_variant - 3/5
X-74667078-G-T ZDHHC15 c.379+3559C>A - IntronicSNV - 4/11
X-74667078-G-C ZDHHC15 c.379+3559C>G - IntronicSNV - 4/11
16-80818676-T-C CDYL2 c.24+19371A>G - IntronicSNV - 1/6
2-159244723-A-T CCDC148 c.26-29641T>A - IntronicSNV - 1/13
21-27464270-A-G APP c.226-1882T>C - IntronicSNV - 2/17
2-97016334-G-A NCAPH c.721-1235G>A - IntronicSNV - 6/17
6-18186697-A-G KDM1B c.573+656A>G - IntronicSNV - 8/17
13-43921761-A-T ENOX1 c.824-2875T>A - IntronicSNV - 8/16
1-223309213-C-A TLR5 c.-352-1007G>T - intron_variant - 3/5
1-230818841-G-T COG2 c.1167-479G>T - IntronicSNV - 10/17
1-216925972-G-A ESRRG c.1-75152C>T - IntronicSNV - 2/7
17-19809953-C-A AKAP10 c.1984-408G>T - IntronicSNV - 14/14
6-33611667-C-T ITPR3 c.160+3336C>T - IntronicSNV - 2/57
11-7594803-C-T PPFIBP2 c.279+7805C>T - IntronicSNV - 3/23
6-33611667-C-G ITPR3 c.160+3336C>G - IntronicSNV - 2/57
7-29331602-A-G CHN2 c.50-62639A>G - IntronicSNV - 1/12
13-31310919-A-G ALOX5AP c.70+1107A>G - IntronicSNV - 1/4
1-225812911-T-C ENAH c.5+27477A>G - IntronicSNV - 1/13
2-116023110-A-G DPP10 c.61-43705A>G - IntronicSNV - 1/25
6-117639620-G-T ROS1 c.5941-205C>A - IntronicSNV - 36/42
8-133209163-C-G KCNQ3 c.387-10735G>C - IntronicSNV - 1/14
17-31957151-T-A ASIC2 c.556-518066A>T - IntronicSNV - 1/9
10-53799265-G-A PRKG1 c.718-14979G>A - IntronicSNV - 5/17
17-31957151-T-G ASIC2 c.556-518066A>C - IntronicSNV - 1/9
16-11207894-T-C CLEC16A c.2117-6578T>C - IntronicSNV - 19/23
16-11207894-T-A CLEC16A c.2117-6578T>A - IntronicSNV - 19/23
6-123814633-C-T TRDN c.853+3705G>A - IntronicSNV - 9/20
2-116241186-G-A DPP10 c.272-15900G>A - IntronicSNV - 3/25
2-234161769-C-T ATG16L1 c.115+1181C>T - IntronicSNV - 1/16
1-232003412-G-T DISC1 c.1981+49149G>T - IntronicSNV - 9/12
7-69113006-G-T AUTS2 c.309+48058G>T - IntronicSNV - 1/17
7-69113006-G-C AUTS2 c.309+48058G>C - IntronicSNV - 1/17
17-76012854-C-T TNRC6C c.-546+11694C>T - intron_variant - 2/20
11-21425763-G-A NELL1 c.1645+33269G>A - IntronicSNV - 15/19
3-49701983-G-A BSN c.11736G>A p.Thr3912Thr Synonymous 9/12 -
20-50054190-G-A NFATC2 c.1850-1892C>T - IntronicSNV - 6/10
4-47145107-C-T GABRB1 c.241-18159C>T - IntronicSNV - 3/8
3-182869818-G-A LAMP3 c.888+345C>T - IntronicSNV - 3/5
12-24981611-A-C BCAT1 c.1119+1146T>G - IntronicSNV - 10/10
11-46743135-T-C F2 c.316+745T>C - IntronicSNV - 4/13
14-104509076-C-T TDRD9 c.3974+552C>T - IntronicSNV - 34/35
1-72101417-T-G NEGR1 c.668-24588A>C - IntronicSNV - 4/6
2-136545844-C-G LCT c.*50G>C - 3-UTRSNV 17/17 -
1-72101417-T-C NEGR1 c.668-24588A>G - IntronicSNV - 4/6
12-64730506-A-G C12orf56 c.416-5694T>C - IntronicSNV - 2/10
1-64098065-T-C PGM1 c.682+612T>C - IntronicSNV - 4/10
6-55218271-G-A GFRAL c.701+1890G>A - IntronicSNV - 5/8
3-29803505-C-T RBMS3 c.555-896C>T - IntronicSNV - 5/13
1-49221303-G-A BEND5 c.745+3269C>T - IntronicSNV - 3/5
10-104318322-G-T SUFU c.454+8459G>T - IntronicSNV - 3/11
1-2546229-G-A MMEL1 c.155-2586C>T - IntronicSNV - 2/23
9-36896143-G-A PAX5 c.910+27209C>T - IntronicSNV - 7/8
1-111434711-C-G CD53 c.64-256C>G - IntronicSNV - 2/7
12-11138852-C-T TAS2R50 c.608G>A p.Cys203Tyr Missense 1/1 -
8-32217225-C-T NRG1 c.38-236121C>T - IntronicSNV - 1/11
4-123329362-G-A ADAD1 c.848+176G>A - IntronicSNV - 8/12
22-33363999-G-T SYN3 c.369+12631C>A - IntronicSNV - 3/13
1-64108771-T-C PGM1 c.1144+4300T>C - IntronicSNV - 7/10
16-53810686-T-C FTO c.46-33366T>C - IntronicSNV - 1/8
2-28632377-G-A FOSL2 c.462+644G>A - IntronicSNV - 3/3
11-21038020-A-G NELL1 c.1300+55914A>G - IntronicSNV - 12/19
6-46865758-T-A ADGRF5 c.157+2008A>T - IntronicSNV - 3/20
1-247835950-T-C OR13G1 c.394A>G p.Ile132Val Missense 1/1 -
1-72099161-G-C NEGR1 c.668-22332C>G - IntronicSNV - 4/6
16-11072459-C-T CLEC16A c.904-727C>T - IntronicSNV - 8/23
5-57913379-A-G RAB3C c.25-91A>G - IntronicSNV - 1/4
22-37544810-G-A IL2RB c.-34+1055C>T - intron_variant - 1/9
8-9471060-A-G TNKS c.899-2032A>G - IntronicSNV - 2/26
17-76033562-C-T TNRC6C c.-219+5639C>T - intron_variant - 3/20
4-144269849-C-G GAB1 c.72+11436C>G - IntronicSNV - 1/9
4-144269849-C-T GAB1 c.72+11436C>T - IntronicSNV - 1/9
17-19809953-C-G AKAP10 c.1984-408G>C - IntronicSNV - 14/14
1-72099161-G-A NEGR1 c.668-22332C>T - IntronicSNV - 4/6
17-19809953-C-T AKAP10 c.1984-408G>A - IntronicSNV - 14/14
6-3419149-T-C SLC22A23 c.-189-3060A>G - intron_variant - 2/10
2-74690378-C-T MOGS c.715G>A p.Asp239Asn Missense 3/4 -
2-231091223-T-C SP140 c.59+605T>C - IntronicSNV - 1/26
9-93577781-G-T SYK c.-42+13606G>T - intron_variant - 1/12
4-57849251-C-T POLR2B c.20-3269C>T - IntronicSNV - 1/24
16-83212398-G-T CDH13 c.484-38552G>T - IntronicSNV - 4/13
10-81915136-T-C ANXA11 c.*473A>G - 3-UTRSNV 17/17 -
4-2949878-A-G NOP14 c.1413+127T>C - IntronicSNV - 9/18
16-83212398-G-A CDH13 c.484-38552G>A - IntronicSNV - 4/13
X-110512005-T-A CAPN6 c.-16+1594A>T - intron_variant - 1/12
6-45965608-G-A CLIC5 c.541-42627C>T - IntronicSNV - 1/5
12-9833628-C-T CLEC2D c.171C>T p.Ser57Ser Synonymous 2/5 -
1-240445596-T-C FMN2 c.4154-12526T>C - IntronicSNV - 7/17
12-12656820-A-G DUSP16 c.368-3204T>C - IntronicSNV - 3/6
4-169673829-A-G PALLD c.1964+40755A>G - IntronicSNV - 10/20
4-2906707-G-A ADD1 c.1378G>A p.Gly460Arg Missense 10/15 -
5-132628884-G-C FSTL4 c.727+19462C>G - IntronicSNV - 6/15
10-104076231-G-A GBF1 c.164-27577G>A - IntronicSNV - 3/39
10-104076231-G-C GBF1 c.164-27577G>C - IntronicSNV - 3/39
5-131341541-G-C ACSL6 c.49+5657C>G - IntronicSNV - 1/20
2-25990640-T-C ASXL2 c.632-45A>G - IntronicSNV - 7/12
9-117250393-A-G WHRN c.619-9342T>C - IntronicSNV - 1/11
7-22985010-A-C FAM126A c.*198T>G - 3-UTRSNV 11/11 -
14-33938199-C-T NPAS3 c.469-91128C>T - IntronicSNV - 4/11
19-12717847-A-G ZNF490 c.162+2125T>C - IntronicSNV - 2/4
1-65681543-T-C AK4 c.266-2894T>C - IntronicSNV - 2/4
12-57968715-C-G KIF5A c.1717-152C>G - IntronicSNV - 15/28
3-29803505-C-A RBMS3 c.555-896C>A - IntronicSNV - 5/13
12-102028792-G-A MYBPC1 c.533+409G>A - IntronicSNV - 7/29
2-189175905-G-A GULP1 c.-172+19012G>A - intron_variant - 1/11
9-36154678-A-C GLIPR2 c.304+3732A>C - IntronicSNV - 4/4
12-9823140-G-A CLEC2D c.61+749G>A - IntronicSNV - 1/4
6-516350-A-C EXOC2 c.2380+16119T>G - IntronicSNV - 23/27
14-76077231-A-G FLVCR2 c.670-11191A>G - IntronicSNV - 1/9
4-144269849-C-A GAB1 c.72+11436C>A - IntronicSNV - 1/9
2-105901673-C-T TGFBRAP1 c.1039-818G>A - IntronicSNV - 4/11
17-12695750-G-A ARHGAP44 c.53+2542G>A - IntronicSNV - 1/20
12-24054572-G-A SOX5 c.39-5614C>T - IntronicSNV - 1/14
18-42309786-T-C SETBP1 c.486+27989T>C - IntronicSNV - 2/3
3-132981813-C-A TMEM108 c.40+33618C>A - IntronicSNV - 3/5
15-80413384-A-G ZFAND6 c.154+544A>G - IntronicSNV - 3/6
15-33167529-C-A FMN1 c.3166+12844G>T - IntronicSNV - 12/16
12-6968741-C-T USP5 c.1130+36C>T - IntronicSNV - 9/19
1-17655407-C-T PADI4 c.93-2057C>T - IntronicSNV - 1/15
2-241515596-G-C RNPEPL1 c.1511-356G>C - IntronicSNV - 8/10
3-56471160-C-T ERC2 c.1-2125G>A - IntronicSNV - 1/17
12-939480-G-T WNK1 c.1311+154G>T - IntronicSNV - 4/27
12-6968741-C-G USP5 c.1130+36C>G - IntronicSNV - 9/19
8-3816368-G-C CSMD1 c.818+39057C>G - IntronicSNV - 5/69
6-151247867-C-T MTHFD1L c.1256+436C>T - IntronicSNV - 11/27
8-133209163-C-T KCNQ3 c.387-10735G>A - IntronicSNV - 1/14
2-206039704-T-C PARD3B c.1792-1465T>C - IntronicSNV - 12/21
7-90719298-T-G CDK14 c.1100+10503T>G - IntronicSNV - 11/13
2-163207480-T-C GCA c.193-1368T>C - IntronicSNV - 2/7
11-16329009-T-C SOX6 c.445+10983A>G - IntronicSNV - 3/15
2-215623390-C-T BARD1 c.1569-6111G>A - IntronicSNV - 6/10
1-18090929-T-C ACTL8 c.-25+8930T>C - intron_variant - 1/2
1-55572867-G-A USP24 c.4762+45C>T - IntronicSNV - 40/67
4-169677392-A-G PALLD c.1964+44318A>G - IntronicSNV - 10/20
8-123833865-G-C ZHX2 c.-283+39680G>C - intron_variant - 1/3
4-169677392-A-T PALLD c.1964+44318A>T - IntronicSNV - 10/20
6-30658239-C-A NRM c.134-219G>T - IntronicSNV - 1/3
22-36702149-G-A MYH9 c.2038-52C>T - IntronicSNV - 16/40
6-138195723-C-G TNFAIP3 c.296-259C>G - IntronicSNV - 2/8
22-45198494-A-G PRR5-ARHGAP8 c.560+450A>G - intron_variant - 6/14
22-36702149-G-T MYH9 c.2038-52C>A - IntronicSNV - 16/40
1-114414179-C-T PTPN22 c.67G>A p.Glu23Lys Missense 1/21 -
12-51357542-A-G HIGD1C c.229+2657A>G - IntronicSNV - 4/4
12-130278402-T-C TMEM132D c.80-93159A>G - IntronicSNV - 1/8
14-31529072-G-C AP4S1 c.1-6331G>C - IntronicSNV - 1/5
11-134039963-A-C NCAPD3 c.3102-1014T>G - IntronicSNV - 24/34
5-122462587-C-T PRDM6 c.900+26931C>T - IntronicSNV - 3/7
17-34391783-C-T CCL18 c.67+14C>T - IntronicSNV - 1/2
12-102042213-C-G MYBPC1 c.1121+285C>G - IntronicSNV - 12/29
12-24054572-G-T SOX5 c.39-5614C>A - IntronicSNV - 1/14
11-57943328-C-T OR9Q1 c.1-3589C>T - IntronicSNV - 2/2
2-212378524-G-A ERBB4 c.2487+48104C>T - IntronicSNV - 20/26
6-117622184-G-C ROS1 c.6686C>G p.Ser2229Cys Missense 42/43 -
5-79095721-G-A CMYA5 c.*282G>A - 3-UTRSNV 13/13 -
13-30152140-A-T SLC7A1 c.-115+17413T>A - intron_variant - 1/12
10-83757021-G-A NRG3 c.823+121102G>A - IntronicSNV - 1/8
4-169603230-G-A PALLD c.1154+681G>A - IntronicSNV - 4/20
2-206039045-A-C PARD3B c.1791+1940A>C - IntronicSNV - 12/21
9-876418-G-T DMRT1 c.539-17494G>T - IntronicSNV - 2/4
16-83212398-G-C CDH13 c.484-38552G>C - IntronicSNV - 4/13
6-152526179-C-T SYNE1 c.23019+1124G>A - IntronicSNV - 126/145
9-117260834-C-T WHRN c.618+5630G>A - IntronicSNV - 1/11
22-37333406-T-G CSF2RB c.1569-13T>G - IntronicSNV - 13/13
19-46307406-A-G RSPH6A c.1653+104T>C - IntronicSNV - 3/5
2-161214175-T-C RBMS1 c.251+9552A>G - IntronicSNV - 2/13
22-26689635-C-T SEZ6L c.835+523C>T - IntronicSNV - 2/16
6-123775326-A-G TRDN c.931+10725T>C - IntronicSNV - 10/20
3-49322027-T-A USP4 c.2131-10A>T - IntronicSNV - 16/20
3-24273854-G-A THRB c.1-3404C>T - IntronicSNV - 2/9
12-56647911-G-T ANKRD52 c.846C>A p.Ser282Ser Synonymous 8/28 -
12-56647911-G-C ANKRD52 c.846C>G p.Ser282Ser Synonymous 8/28 -
16-89596106-C-T SPG7 c.861+119C>T - IntronicSNV - 6/16
3-12390484-T-C PPARG c.1-30721T>C - IntronicSNV - 1/6
15-78884227-T-G CHRNA5 c.1246-1207T>G - IntronicSNV - 5/5
16-23634026-A-G PALB2 c.2996+264T>C - IntronicSNV - 9/12
2-231091223-T-G SP140 c.59+605T>G - IntronicSNV - 1/26
16-23634026-A-C PALB2 c.2996+264T>G - IntronicSNV - 9/12
11-130160456-T-C ZBTB44 c.-57+23814A>G - intron_variant - 1/5
3-7651185-C-A GRM7 c.2451+30141C>A - IntronicSNV - 8/9
7-11710892-C-A THSD7A c.191-34304G>T - IntronicSNV - 1/27
5-131651261-A-G SLC22A4 c.652+1800A>G - IntronicSNV - 3/9
4-25417244-C-T ANAPC4 c.1901+82C>T - IntronicSNV - 26/28
3-61583283-T-G PTPRG c.85+35237T>G - IntronicSNV - 1/29
7-11710892-C-G THSD7A c.191-34304G>C - IntronicSNV - 1/27
14-55249345-C-T SAMD4A c.2045-1910C>T - IntronicSNV - 11/12
14-78028378-C-T SPTLC2 c.850+361G>A - IntronicSNV - 6/11
22-29132389-G-C CHEK2 c.1-1680C>G - IntronicSNV - 1/15
22-29132389-G-A CHEK2 c.1-1680C>T - IntronicSNV - 1/15
3-139702991-C-G CLSTN2 c.109+48666C>G - IntronicSNV - 1/16
16-50745199-C-A NOD2 c.1377C>A p.Arg459Arg Synonymous 4/12 -
19-46288706-A-C DMWD c.1902+146T>G - IntronicSNV - 3/4
19-46288706-A-T DMWD c.1902+146T>A - IntronicSNV - 3/4
14-76001394-T-C BATF c.168+9863T>C - IntronicSNV - 2/2
16-50745199-C-T NOD2 c.1377C>T p.Arg459Arg Synonymous 4/12 -
1-66558759-A-G PDE4B c.282-154384A>G - IntronicSNV - 3/16
5-153584363-A-G GALNT10 c.159+13778A>G - IntronicSNV - 1/11
9-113196429-C-T SVEP1 c.5059+187G>A - IntronicSNV - 30/47
4-169673829-A-T PALLD c.1964+40755A>T - IntronicSNV - 10/20
18-50448235-C-T DCC c.698-1842C>T - IntronicSNV - 3/28