PMID: 20585627

Web-based, participant-driven studies yield novel genetic associations for common traits.

PLoS genetics
N Eriksson, JM Macpherson, JY Tung, LS Hon, B Naughton, S Saxonov, L Avey, A Wojcicki, I Pe'er, J Mountain
2010-06-24

180 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
11-89018440-A-G TYR c.1366+318A>G - IntronicSNV - 4/4
1-152488428-T-C CRCT1 c.*269T>C - 3-UTRSNV 2/2 -
6-411064-A-G IRF4 c.*3466A>G - 3-UTRSNV 9/9 -
6-411064-A-T IRF4 c.*3466A>T - 3-UTRSNV 9/9 -
15-28147206-T-C OCA2 c.2079+24067A>G - IntronicSNV - 19/23
8-133103290-T-C HHLA1 c.449-1444A>G - IntronicSNV - 6/15
20-33218090-G-A PIGU c.529+4329C>T - IntronicSNV - 6/11
16-89831510-C-T FANCA c.2602-36G>A - IntronicSNV - 27/42
15-28282741-G-T OCA2 c.228-5432C>A - IntronicSNV - 2/23
15-28192224-A-G OCA2 c.1951+4706T>C - IntronicSNV - 18/23
20-32648738-A-G RALY c.1-11143A>G - IntronicSNV - 2/8
16-90024202-G-A DEF8 c.555+134G>A - IntronicSNV - 5/12
16-89831510-C-A FANCA c.2602-36G>T - IntronicSNV - 27/42
15-28235773-C-T OCA2 c.1065G>A p.Ala355Ala Synonymous 10/24 -
15-28072228-A-G OCA2 c.2432+17877T>C - IntronicSNV - 23/23
1-152083325-A-C TCHH c.2368T>G p.Leu790Val Missense 3/3 -
15-28365733-C-A HERC2 c.13272+759G>T - IntronicSNV - 86/92
15-28260053-G-A OCA2 c.913C>T p.Arg305Trp Missense 9/24 -
16-89851033-C-G FANCA c.1470+229G>C - IntronicSNV - 15/42
15-28283507-G-A OCA2 c.228-6198C>T - IntronicSNV - 2/23
15-28268990-C-A OCA2 c.573+1001G>T - IntronicSNV - 5/23
6-493976-G-A EXOC2 c.2560-2790C>T - IntronicSNV - 25/27
15-28276762-G-A OCA2 c.326+449C>T - IntronicSNV - 3/23
15-28053778-C-T OCA2 c.2432+36327G>A - IntronicSNV - 23/23
15-28053778-C-G OCA2 c.2432+36327G>C - IntronicSNV - 23/23
16-89603586-A-G SPG7 c.1324+4542A>G - IntronicSNV - 9/16
16-89656251-T-C CPNE7 c.1287-54T>C - IntronicSNV - 12/16
16-89851033-C-T FANCA c.1470+229G>A - IntronicSNV - 15/42
9-132444099-A-G PRRX2 c.259+15694A>G - IntronicSNV - 1/3
20-33186480-T-C PIGU c.628-10069A>G - IntronicSNV - 7/11
16-89920025-C-T SPIRE2 c.646-669C>T - IntronicSNV - 3/14
16-89800550-G-A ZNF276 c.1249+104G>A - IntronicSNV - 9/10
6-542159-A-G EXOC2 c.2238+7016T>C - IntronicSNV - 22/27
15-28310974-A-G OCA2 c.227+15820T>C - IntronicSNV - 2/23
5-33955673-T-C SLC45A2 c.889-1064A>G - IntronicSNV - 3/6
15-28328765-G-A OCA2 c.1-1745C>T - IntronicSNV - 1/23
1-152083325-A-T TCHH c.2368T>A p.Leu790Met Missense 3/3 -
14-74537885-T-G ALDH6A1 c.691+13A>C - IntronicSNV - 6/11
14-74509660-A-G BBOF1 c.576+2312A>G - IntronicSNV - 5/11
16-89355278-A-G ANKRD11 c.602-200T>C - IntronicSNV - 6/12
11-88740379-A-G GRM5 c.661+40001T>C - IntronicSNV - 2/8
15-28199305-A-C OCA2 c.1842+999T>G - IntronicSNV - 17/23
15-28151062-C-T OCA2 c.2079+20211G>A - IntronicSNV - 19/23
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
9-12704725-C-G TYRP1 c.1261+20C>G - IntronicSNV - 6/7
11-68840160-A-G TPCN2 c.1127A>G p.Lys376Arg Missense 12/25 -
16-89734349-T-C SPATA33 c.209-1345T>C - IntronicSNV - 2/2
15-28488888-T-C HERC2 c.3577+2139A>G - IntronicSNV - 23/92
20-32667298-T-C RALY c.*5-418T>C - intron_variant - 8/8
15-28185038-G-A OCA2 c.1951+11892C>T - IntronicSNV - 18/23
15-28185038-G-C OCA2 c.1951+11892C>G - IntronicSNV - 18/23
15-28281765-C-T OCA2 c.228-4456G>A - IntronicSNV - 2/23
20-34390527-A-G PHF20 c.83+1000A>G - IntronicSNV - 2/17
20-33355046-G-A NCOA6 c.514+1221C>T - IntronicSNV - 5/14
15-28288549-G-A OCA2 c.228-11240C>T - IntronicSNV - 2/23
15-28338713-A-C OCA2 c.-22+5657T>G - intron_variant - 1/23
11-88395396-A-G GRM5 c.912-8825T>C - IntronicSNV - 3/8
11-126296589-C-T KIRREL3 c.1807-970G>A - IntronicSNV - 15/16
16-89795485-C-T ZNF276 c.861-158C>T - IntronicSNV - 5/10
15-90447946-A-G ARPIN c.302-731T>C - IntronicSNV - 3/5
16-89805261-A-G FANCA c.4260+29T>C - IntronicSNV - 42/42
16-89805261-A-C FANCA c.4260+29T>G - IntronicSNV - 42/42
20-33657126-G-A TRPC4AP c.387C>T p.Tyr129Tyr Synonymous 3/19 -
16-89869761-T-C FANCA c.710-12A>G - IntronicSNV - 7/42
15-28080061-C-T OCA2 c.2432+10044G>A - IntronicSNV - 23/23
6-408012-G-A IRF4 c.*414G>A - 3-UTRSNV 9/9 -
16-89598760-A-G SPG7 c.1151-111A>G - IntronicSNV - 8/16
2-219746561-T-C WNT10A c.114-322T>C - IntronicSNV - 1/3
5-33967145-C-G SLC45A2 c.563-3024G>C - IntronicSNV - 2/6
20-33351864-T-C NCOA6 c.514+4403A>G - IntronicSNV - 5/14
15-28181981-T-G OCA2 c.1952-10581A>C - IntronicSNV - 18/23
15-28181981-T-A OCA2 c.1952-10581A>T - IntronicSNV - 18/23
15-28230097-C-T OCA2 c.1364+113G>A - IntronicSNV - 13/23
16-89385561-C-T ANKRD11 c.1-2134G>A - IntronicSNV - 2/12
15-28018655-G-T OCA2 c.2433-18037C>A - IntronicSNV - 23/23
20-32588095-T-G RALY c.-93+6158T>G - intron_variant - 1/8
5-33964938-C-T SLC45A2 c.563-817G>A - IntronicSNV - 2/6
20-32588095-T-C RALY c.-93+6158T>C - intron_variant - 1/8
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
16-89712889-C-T CHMP1A c.569+46G>A - IntronicSNV - 6/6
11-89005253-A-C TYR c.1185-12688A>C - IntronicSNV - 3/4
16-89712889-C-G CHMP1A c.569+46G>C - IntronicSNV - 6/6
21-43707101-C-G ABCG1 c.1007-898C>G - IntronicSNV - 8/14
15-28526228-G-A HERC2 c.323-795C>T - IntronicSNV - 4/92
16-89909401-T-A SPIRE2 c.245-2329T>A - IntronicSNV - 1/14
16-89909401-T-C SPIRE2 c.245-2329T>C - IntronicSNV - 1/14
15-28021888-G-A OCA2 c.2433-21270C>T - IntronicSNV - 23/23
15-28080367-A-G OCA2 c.2432+9738T>C - IntronicSNV - 23/23
16-89818732-C-G FANCA c.2982-102G>C - IntronicSNV - 30/42
20-33718706-G-A EDEM2 c.844+739C>T - IntronicSNV - 7/10
15-28237909-T-C OCA2 c.1045-2116A>G - IntronicSNV - 9/23
16-89726484-G-T SPATA33 c.208+1655G>T - IntronicSNV - 2/2
15-28053557-A-G OCA2 c.2432+36548T>C - IntronicSNV - 23/23
16-89842029-C-G FANCA c.1900+121G>C - IntronicSNV - 21/42
15-28323770-A-G OCA2 c.227+3024T>C - IntronicSNV - 2/23
11-89018440-A-T TYR c.1366+318A>T - IntronicSNV - 4/4
16-89836323-C-T FANCA c.2426G>A p.Gly809Asp Missense 26/43 -
15-28288121-G-T OCA2 c.228-10812C>A - IntronicSNV - 2/23
15-28288748-A-G OCA2 c.228-11439T>C - IntronicSNV - 2/23
15-28179306-C-A OCA2 c.1952-7906G>T - IntronicSNV - 18/23
15-28179306-C-G OCA2 c.1952-7906G>C - IntronicSNV - 18/23
16-89726484-G-A SPATA33 c.208+1655G>A - IntronicSNV - 2/2
16-90141477-T-G PRDM7 c.194-46A>C - IntronicSNV - 2/9
16-90141477-T-A PRDM7 c.194-46A>T - IntronicSNV - 2/9
15-28283689-C-T OCA2 c.228-6380G>A - IntronicSNV - 2/23
15-28520506-A-G HERC2 c.543-355T>C - IntronicSNV - 5/92
15-28216857-C-T OCA2 c.1504-4889G>A - IntronicSNV - 14/23
16-89814807-T-C FANCA c.3348+260A>G - IntronicSNV - 33/42
16-89789898-T-C ZNF276 c.562T>C p.Trp188Arg Missense 4/11 -
16-89692298-A-T DPEP1 c.1-4521A>T - IntronicSNV - 1/10
16-89692298-A-G DPEP1 c.1-4521A>G - IntronicSNV - 1/10
11-107481518-C-T ELMOD1 c.1-7398C>T - IntronicSNV - 1/11
15-28294922-G-T OCA2 c.228-17613C>A - IntronicSNV - 2/23
15-28294922-G-A OCA2 c.228-17613C>T - IntronicSNV - 2/23
1-17605774-C-A PADI3 c.1556-1071C>A - IntronicSNV - 13/15
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
16-89730827-T-G SPATA33 c.209-4867T>G - IntronicSNV - 2/2
16-89730827-T-C SPATA33 c.209-4867T>C - IntronicSNV - 2/2
9-12704725-C-T TYRP1 c.1261+20C>T - IntronicSNV - 6/7
16-89648580-C-T CPNE7 c.498-1272C>T - IntronicSNV - 3/16
15-28211921-G-A OCA2 c.1551C>T p.Cys517Cys Synonymous 15/24 -
6-518078-G-A EXOC2 c.2380+14391C>T - IntronicSNV - 23/27
9-12704725-C-A TYRP1 c.1261+20C>A - IntronicSNV - 6/7
1-17605774-C-T PADI3 c.1556-1071C>T - IntronicSNV - 13/15
15-28264854-A-G OCA2 c.647-1151T>C - IntronicSNV - 6/23
15-28179603-C-T OCA2 c.1952-8203G>A - IntronicSNV - 18/23
11-68847156-C-T TPCN2 c.1540-146C>T - IntronicSNV - 16/24
20-33364584-C-T NCOA6 c.236-333G>A - IntronicSNV - 3/14
1-152484129-G-A LCE5A c.119G>A p.Cys40Tyr Missense 2/2 -
2-219756383-C-G WNT10A c.757-1113C>G - IntronicSNV - 3/3
11-88930377-A-G TYR c.1036+5791A>G - IntronicSNV - 2/4
16-89815217-C-T FANCA c.3240-42G>A - IntronicSNV - 32/42
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
16-89755903-A-T CDK10 c.-54+171A>T - intron_variant - 2/12
15-28158075-C-A OCA2 c.2079+13198G>T - IntronicSNV - 19/23
5-33955326-C-A SLC45A2 c.889-717G>T - IntronicSNV - 3/6
15-28040342-C-T OCA2 c.2433-39724G>A - IntronicSNV - 23/23
6-403799-A-G IRF4 c.1097-1219A>G - IntronicSNV - 7/8
15-28145050-T-C OCA2 c.2079+26223A>G - IntronicSNV - 19/23
20-31950845-G-A CDK5RAP1 c.1543-2548C>T - IntronicSNV - 12/13
20-32426842-A-G CHMP4B c.191-9431A>G - IntronicSNV - 1/4
16-89858505-T-C FANCA c.1084-29A>G - IntronicSNV - 12/42
16-89869761-T-G FANCA c.710-12A>C - IntronicSNV - 7/42
15-28228644-G-A OCA2 c.1365-15C>T - IntronicSNV - 13/23
15-28272065-C-A OCA2 c.515+952G>T - IntronicSNV - 4/23
15-28272065-C-T OCA2 c.515+952G>A - IntronicSNV - 4/23
1-248487638-A-T OR2M7 c.233T>A p.Val78Glu Missense 1/1 -
15-29314772-G-A APBA2 c.-41+26763G>A - intron_variant - 2/13
15-28231357-G-T OCA2 c.1239+376C>A - IntronicSNV - 12/23
20-32615223-A-G RALY c.-92-4105A>G - intron_variant - 1/8
20-33867697-A-G EIF6 c.546+48T>C - IntronicSNV - 5/6
16-89875710-A-C FANCA c.523-935T>G - IntronicSNV - 5/42
16-90037828-G-A CENPBD1 c.503C>T p.Thr168Ile Missense 1/1 -
16-90037828-G-C CENPBD1 c.503C>G p.Thr168Arg Missense 1/1 -
16-89805977-G-A FANCA c.3935-16C>T - IntronicSNV - 39/42
1-248487638-A-G OR2M7 c.233T>C p.Val78Ala Missense 1/1 -
2-219756383-C-T WNT10A c.757-1113C>T - IntronicSNV - 3/3
11-88358544-A-G GRM5 c.1148-20412T>C - IntronicSNV - 4/8
15-28221138-G-A OCA2 c.1503+7353C>T - IntronicSNV - 14/23
15-28368969-C-T HERC2 c.13188+214G>A - IntronicSNV - 85/92
16-89844276-G-C FANCA c.1826+933C>G - IntronicSNV - 20/42
5-33950703-A-G SLC45A2 c.1156+956T>C - IntronicSNV - 5/6
20-33729147-T-G EDEM2 c.364+1029A>C - IntronicSNV - 4/10
5-33951826-G-T SLC45A2 c.1033-44C>A - IntronicSNV - 4/6
11-88545014-C-T GRM5 c.911+38060G>A - IntronicSNV - 3/8
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
14-74551970-G-C LIN52 c.19+274G>C - intron_variant - 1/5
15-28516084-C-T HERC2 c.1084-70G>A - IntronicSNV - 9/92
15-28386626-C-T HERC2 c.11967G>A p.Gln3989Gln Synonymous 78/93 -
15-28494032-G-A HERC2 c.3051-150C>T - IntronicSNV - 20/92
5-33948319-T-C SLC45A2 c.1157-840A>G - IntronicSNV - 5/6
15-28011651-G-T OCA2 c.2433-11033C>A - IntronicSNV - 23/23
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
11-88969774-T-C TYR c.1184+8636T>C - IntronicSNV - 3/4
16-89849583-C-T FANCA c.1471-73G>A - IntronicSNV - 15/42
20-31806588-T-C BPIFA3 c.127+1119T>C - IntronicSNV - 1/6
15-28069068-T-G OCA2 c.2432+21037A>C - IntronicSNV - 23/23
15-28199853-C-A OCA2 c.1842+451G>T - IntronicSNV - 17/23