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

59 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89795485-C-T ZNF276 c.861-158C>T - IntronicSNV - 5/10
20-33867697-A-G EIF6 c.546+48T>C - IntronicSNV - 5/6
16-89986117-C-A MC1R c.451C>A p.Arg151Ser Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
16-89875710-A-C FANCA c.523-935T>G - IntronicSNV - 5/42
2-219756383-C-G WNT10A c.757-1113C>G - IntronicSNV - 3/3
2-219756383-C-T WNT10A c.757-1113C>T - IntronicSNV - 3/3
6-403799-A-G IRF4 c.1097-1219A>G - IntronicSNV - 7/8
15-28221138-G-A OCA2 c.1503+7353C>T - IntronicSNV - 14/23
15-28294922-G-T OCA2 c.228-17613C>A - IntronicSNV - 2/23
15-28179306-C-A OCA2 c.1952-7906G>T - IntronicSNV - 18/23
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
15-28294922-G-A OCA2 c.228-17613C>T - IntronicSNV - 2/23
15-28516084-C-T HERC2 c.1084-70G>A - IntronicSNV - 9/92
15-28494032-G-A HERC2 c.3051-150C>T - IntronicSNV - 20/92
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
11-88740379-A-G GRM5 c.661+40001T>C - IntronicSNV - 2/8
16-89385561-C-T ANKRD11 c.1-2134G>A - IntronicSNV - 2/12
11-89018440-A-G TYR c.1366+318A>G - IntronicSNV - 4/4
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
11-89005253-A-C TYR c.1185-12688A>C - IntronicSNV - 3/4
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
15-28199853-C-A OCA2 c.1842+451G>T - IntronicSNV - 17/23
15-28526228-G-A HERC2 c.323-795C>T - IntronicSNV - 4/92
6-411064-A-G IRF4 c.*3466A>G - 3-UTRSNV 9/9 -
6-411064-A-T IRF4 c.*3466A>T - 3-UTRSNV 9/9 -
16-89920025-C-T SPIRE2 c.646-669C>T - IntronicSNV - 3/14
15-28288121-G-T OCA2 c.228-10812C>A - IntronicSNV - 2/23
16-89818732-C-G FANCA c.2982-102G>C - IntronicSNV - 30/42
16-90024202-G-A DEF8 c.555+134G>A - IntronicSNV - 5/12
16-89831510-C-T FANCA c.2602-36G>A - IntronicSNV - 27/42
16-89831510-C-A FANCA c.2602-36G>T - IntronicSNV - 27/42
15-28365733-C-A HERC2 c.13272+759G>T - IntronicSNV - 86/92
16-89836323-C-T FANCA c.2426G>A p.Gly809Asp Missense 26/43 -
1-152083325-A-C TCHH c.2368T>G p.Leu790Val Missense 3/3 -
15-28235773-C-T OCA2 c.1065G>A p.Ala355Ala Synonymous 10/24 -
1-152083325-A-T TCHH c.2368T>A p.Leu790Met Missense 3/3 -
20-31806588-T-C BPIFA3 c.127+1119T>C - IntronicSNV - 1/6
11-89018440-A-T TYR c.1366+318A>T - IntronicSNV - 4/4
15-28040342-C-T OCA2 c.2433-39724G>A - IntronicSNV - 23/23
15-28281765-C-T OCA2 c.228-4456G>A - IntronicSNV - 2/23
15-28018655-G-T OCA2 c.2433-18037C>A - IntronicSNV - 23/23
15-28179306-C-G OCA2 c.1952-7906G>C - IntronicSNV - 18/23
16-90141477-T-G PRDM7 c.194-46A>C - IntronicSNV - 2/9
16-90141477-T-A PRDM7 c.194-46A>T - IntronicSNV - 2/9
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
20-31950845-G-A CDK5RAP1 c.1543-2548C>T - IntronicSNV - 12/13
15-28335820-A-G OCA2 c.-22+8550T>C - intron_variant - 1/23
15-28192224-A-G OCA2 c.1951+4706T>C - IntronicSNV - 18/23
15-28335820-A-T OCA2 c.-22+8550T>A - intron_variant - 1/23
11-88930377-A-G TYR c.1036+5791A>G - IntronicSNV - 2/4
16-89734349-T-C SPATA33 c.209-1345T>C - IntronicSNV - 2/2
15-28288549-G-A OCA2 c.228-11240C>T - IntronicSNV - 2/23
20-32426842-A-G CHMP4B c.191-9431A>G - IntronicSNV - 1/4
1-248487638-A-G OR2M7 c.233T>C p.Val78Ala Missense 1/1 -
20-33355046-G-A NCOA6 c.514+1221C>T - IntronicSNV - 5/14
1-248487638-A-T OR2M7 c.233T>A p.Val78Glu Missense 1/1 -