PMID: 20876667

Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American journal of epidemiology
Panagiotou, Orestis A OA, Evangelou, Evangelos E, Ioannidis, John P A JP
2010-10-15

58 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505647-G-A PCSK9 c.137G>A p.R46H Missense 1/12 -
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
9-107620835-G-A ABCA1 c.688C>T p.R230C Missense 7/50 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
12-117002658-G-A MAP1LC3B2 c.-102+5420G>A - intron_variant - 1/1
6-138195723-C-G TNFAIP3 c.296-259C>G - IntronicSNV - 2/8
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
6-26093144-A-C HFE c.848A>C p.Q283P Missense 4/6 -
15-28228529-T-C OCA2 c.1465A>G p.N489D Missense 14/24 -
5-33955673-T-C SLC45A2 c.889-1064A>G - IntronicSNV - 3/6
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
6-26093443-G-T HFE c.989G>T p.R330M Missense 5/6 -
15-28116316-G-A OCA2 c.2228C>T p.P743L Missense 21/24 -
3-37518545-T-A ITGA9 c.420+3594T>A - IntronicSNV - 3/27
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
10-17388143-C-T ST8SIA6 c.377+13370G>A - IntronicSNV - 4/7
15-28171315-C-G OCA2 c.2037G>C p.W679C Missense 19/24 -
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
11-117531731-C-T DSCAML1 c.511+115775G>A - intron_variant - 3/32
9-107560785-G-A ABCA1 c.5038C>T p.R1680W Missense 37/50 -
9-107639414-G-A ABCA1 c.421+5906C>T - IntronicSNV - 5/49
9-107658385-G-A ABCA1 c.67-6909C>T - IntronicSNV - 2/49
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
11-116621963-T-G BUD13 c.1767-2672A>C - IntronicSNV - 9/9
9-107648652-C-T ABCA1 c.161-1803G>A - IntronicSNV - 3/49
11-116655600-G-A ZPR1 c.791C>T p.A264V Missense 8/14 -
5-33982434-C-T SLC45A2 c.469G>A p.D157N Missense 2/7 -
15-28171315-C-A OCA2 c.2037G>T p.W679C Missense 19/24 -
13-43180696-T-A TNFSF11 c.596T>A p.M199K Missense 5/5 -
16-89986136-C-T MC1R c.470C>T p.T157I Missense 1/1 -
11-116655600-G-C ZPR1 c.791C>G p.A264G Missense 8/14 -
3-37522828-G-A ITGA9 c.421-147G>A - IntronicSNV - 3/27
15-28259965-G-A OCA2 c.1001C>T p.A334V Missense 9/24 -
12-41721430-C-G PDZRN4 c.843+133440C>G - IntronicSNV - 3/9
12-41721430-C-T PDZRN4 c.843+133440C>T - IntronicSNV - 3/9
1-201262432-C-G PKP1 c.203-638C>G - IntronicSNV - 1/13
1-201262432-C-T PKP1 c.203-638C>T - IntronicSNV - 1/13
15-28263548-G-A OCA2 c.802C>T p.Q268* Nonsense 7/24 -
15-28483811-C-T HERC2 c.3685G>A p.D1229N Missense 24/93 -
13-42875512-C-T AKAP11 c.2630C>T p.A877V Missense 8/13 -
16-89986141-C-A MC1R c.475C>A p.P159T Missense 1/1 -
16-89986133-T-A MC1R c.467T>A p.V156E Missense 1/1 -
15-28234747-C-G OCA2 c.1182G>C p.M394I Missense 11/24 -
15-28234747-C-T OCA2 c.1182G>A p.M394I Missense 11/24 -
15-28234747-C-A OCA2 c.1182G>T p.M394I Missense 11/24 -
5-33944889-G-A SLC45A2 c.1457C>T p.A486V Missense 7/7 -
1-201282447-CGC-TGA PKP1 c.460_462delCGCinsTGA p.R154* Nonsense 3/14 -
9-107593379-G-T ABCA1 c.1719C>A p.Y573* Nonsense 14/50 -
9-107593379-G-C ABCA1 c.1719C>G p.Y573* Nonsense 14/50 -