PMID: 27896059

Signatures of natural selection on genetic variants affecting complex human traits.

Applied & translational genomics
G Zhang, LJ Muglia, R Chakraborty, JM Akey, SM Williams
2013-12-01

37 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28365618-A-G HERC2 c.13272+874T>C - IntronicSNV - 86/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
17-40527544-A-T STAT3 c.-2+12753T>A - intron_variant - 1/23
2-43732823-T-C THADA c.3559A>G p.Thr1187Ala Missense 24/38 -
17-40527544-A-G STAT3 c.-2+12753T>C - intron_variant - 1/23
20-33819415-A-G MMP24 c.246+4628A>G - IntronicSNV - 1/8
2-43806918-C-T THADA c.722-1172G>A - IntronicSNV - 8/37
2-43553949-T-C THADA c.4344-6270A>G - IntronicSNV - 30/37
2-43540125-T-G THADA c.4438+7460A>C - IntronicSNV - 31/37
2-43587504-C-T THADA c.4228-16128G>A - IntronicSNV - 29/37
1-155878732-A-G RIT1 c.163+1509T>C - IntronicSNV - 3/5
15-28356859-C-T HERC2 c.*50G>A - 3-UTRSNV 93/93 -
2-61204856-A-G PUS10 c.469-6164T>C - IntronicSNV - 4/17
15-75077367-C-A CSK c.-66+2306C>A - intron_variant - 1/12
1-1247494-T-C INTS11 c.1641A>G p.Pro547Pro Synonymous 16/17 -
15-75077367-C-T CSK c.-66+2306C>T - intron_variant - 1/12
20-60921044-T-C LAMA5 c.1417+93A>G - IntronicSNV - 10/79
15-91521337-C-A PRC1 c.1107+1051G>T - IntronicSNV - 8/14
2-43638838-A-C THADA c.4059-13560T>G - IntronicSNV - 28/37
2-61186829-A-G PUS10 c.1000+698T>C - IntronicSNV - 11/17
12-111884608-T-G SH2B3 c.784T>G p.Trp262Gly Missense 3/8 -
20-34025756-A-G GDF5 c.1-48T>C - 5-UTRSNV 1/2 -
2-43687879-C-T THADA c.3836+24494G>A - IntronicSNV - 26/37
8-11045161-G-A XKR6 c.764+12924C>T - IntronicSNV - 1/2
8-11045161-G-T XKR6 c.764+12924C>A - IntronicSNV - 1/2
2-56111309-C-T EFEMP1 c.518-2440G>A - IntronicSNV - 5/11
2-135837906-C-A RAB3GAP1 c.151-10662C>A - IntronicSNV - 3/23
2-43721508-C-T THADA c.3744+4464G>A - IntronicSNV - 25/37
12-111904371-T-A ATXN2 c.2837-1852A>T - intron_variant - 20/24
1-1247494-T-A INTS11 c.1641A>T p.Pro547Pro Synonymous 16/17 -
1-1247494-T-G INTS11 c.1641A>C p.Pro547Pro Synonymous 16/17 -
12-112007756-C-T ATXN2 c.252-14033G>A - intron_variant - 1/24
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
15-28513364-T-C HERC2 c.1598+247A>G - IntronicSNV - 12/92
15-28513364-T-G HERC2 c.1598+247A>C - IntronicSNV - 12/92