PMID: 21151130

Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

Nature genetics
JN Painter, CA Anderson, DR Nyholt, S Macgregor, J Lin, SH Lee, A Lambert, ZZ Zhao, F Roseman, Q Guo, SD Gordon, L Wallace, AK Henders, PM Visscher, P Kraft, NG Martin, AP Morris, SA Treloar, SH Kennedy, SA Missmer, GW Montgomery, KT Zondervan
2011-01

69 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
18-34046384-A-C FHOD3 c.338-35511A>C - IntronicSNV - 3/24
8-108422946-G-A ANGPT1 c.298-63621C>T - IntronicSNV - 1/8
1-153282072-C-A PGLYRP3 c.55+1015G>T - IntronicSNV - 1/6
7-107244545-C-T BCAP29 c.589+3595C>T - IntronicSNV - 6/7
1-68899762-G-A RPE65 c.1129-2494C>T - IntronicSNV - 10/13
2-38222086-A-G RMDN2 c.1480-2473A>G - IntronicSNV - 7/10
3-30913645-C-T GADL1 c.38-10388G>A - IntronicSNV - 1/14
6-50715407-C-T TFAP2D c.1025+2446C>T - IntronicSNV - 6/7
18-43962917-T-C RNF165 c.61+48619T>C - IntronicSNV - 1/7
3-30913645-C-A GADL1 c.38-10388G>T - IntronicSNV - 1/14
10-117325021-T-C ATRNL1 c.3795+15975T>C - IntronicSNV - 26/28
1-204975735-G-A NFASC c.3290-2950G>A - IntronicSNV - 27/29
X-155004636-G-T SPRY3 c.*236G>T - 3-UTRSNV 2/2 -
6-152638209-A-G SYNE1 c.16573-88T>C - IntronicSNV - 86/145
20-32295541-C-T PXMP4 c.610G>A p.Val204Ile Missense 4/4 -
1-172100831-G-C DNM3 c.1659+403G>C - IntronicSNV - 14/20
20-32015036-G-A SNTA1 c.497-9307C>T - IntronicSNV - 2/7
11-57925977-C-T OR9Q1 c.1-20940C>T - IntronicSNV - 2/2
1-172100831-G-A DNM3 c.1659+403G>A - IntronicSNV - 14/20
10-101663438-G-A DNMBP c.2555-3615C>T - IntronicSNV - 6/16
3-60040105-A-G FHIT c.104-40227T>C - IntronicSNV - 5/9
1-154795389-G-A KCNN3 c.934-729C>T - IntronicSNV - 1/7
11-77825275-A-C ALG8 c.673+37T>G - IntronicSNV - 6/12
6-152638209-A-C SYNE1 c.16573-88T>G - IntronicSNV - 86/145
5-22220282-A-G CDH12 c.1-141497T>C - IntronicSNV - 1/14
10-101663438-G-T DNMBP c.2555-3615C>A - IntronicSNV - 6/16
8-108439362-G-A ANGPT1 c.297+70128C>T - IntronicSNV - 1/8
1-154828409-G-A KCNN3 c.933+13099C>T - IntronicSNV - 1/7
6-152554396-C-T SYNE1 c.20712+520G>A - IntronicSNV - 112/145
19-1773999-C-T ONECUT3 c.1193-1153C>T - IntronicSNV - 1/1
7-134607676-A-T CALD1 c.72-5829A>T - IntronicSNV - 3/14
1-228224824-A-G WNT3A c.314-13533A>G - IntronicSNV - 2/3
8-108463840-C-G ANGPT1 c.297+45650G>C - IntronicSNV - 1/8
8-108463840-C-A ANGPT1 c.297+45650G>T - IntronicSNV - 1/8
8-108463840-C-T ANGPT1 c.297+45650G>A - IntronicSNV - 1/8
12-81031541-A-T PTPRQ c.5459+2689A>T - intron_variant - 37/46
16-12304618-T-C SNX29 c.1678+11078T>C - IntronicSNV - 14/20
20-60139227-C-A CDH4 c.170-179392C>A - IntronicSNV - 2/15
2-216287093-A-G FN1 c.1394-127T>C - IntronicSNV - 9/43
8-108447543-A-G ANGPT1 c.297+61947T>C - IntronicSNV - 1/8
4-167917926-T-C SPOCK3 c.350+3574A>G - IntronicSNV - 4/10
8-108458582-T-A ANGPT1 c.297+50908A>T - IntronicSNV - 1/8
13-111146513-A-C COL4A2 c.3634+884A>C - IntronicSNV - 39/47
10-33532755-T-G NRP1 c.981+10201A>C - IntronicSNV - 6/11
1-234364285-C-A SLC35F3 c.284-2878C>A - IntronicSNV - 2/7
12-27143508-G-T TM7SF3 c.743C>A p.Pro248Gln Missense 6/12 -
12-27143508-G-A TM7SF3 c.743C>T p.Pro248Leu Missense 6/12 -
1-234364285-C-G SLC35F3 c.284-2878C>G - IntronicSNV - 2/7
19-35612286-A-G FXYD3 c.97+137A>G - IntronicSNV - 6/8
20-10394477-A-G MKKS c.1-315T>C - 5-UTRSNV - 2/5
1-24482004-G-A IFNLR1 c.*1616C>T - 3-UTRSNV 7/7 -
3-9972493-G-A IL17RC c.1294-86G>A - IntronicSNV - 14/17
12-77443689-T-C E2F7 c.538+667A>G - IntronicSNV - 4/12
13-111151959-G-A COL4A2 c.3761-2056G>A - IntronicSNV - 40/47
1-172119559-T-C DNM3 c.1659+19131T>C - IntronicSNV - 14/20
6-152638209-A-T SYNE1 c.16573-88T>A - IntronicSNV - 86/145
X-155004636-G-A SPRY3 c.*236G>A - 3-UTRSNV 2/2 -
11-77825275-A-G ALG8 c.673+37T>C - IntronicSNV - 6/12
11-100923166-C-G PGR c.2213-867G>C - IntronicSNV - 4/7
8-108458582-T-C ANGPT1 c.297+50908A>G - IntronicSNV - 1/8
16-49717571-G-A ZNF423 c.278-44786C>T - IntronicSNV - 3/7
12-81031541-A-C PTPRQ c.5459+2689A>C - intron_variant - 37/46
11-93865651-G-T PANX1 c.181+2992G>T - IntronicSNV - 1/4
7-134607676-A-G CALD1 c.72-5829A>G - IntronicSNV - 3/14
3-127645188-T-C KBTBD12 c.1071-1419T>C - IntronicSNV - 2/5
8-108476951-T-C ANGPT1 c.297+32539A>G - IntronicSNV - 1/8
8-108446403-A-G ANGPT1 c.297+63087T>C - IntronicSNV - 1/8
8-108489996-A-C ANGPT1 c.297+19494T>G - IntronicSNV - 1/8
12-27161129-G-A TM7SF3 c.92-4806C>T - IntronicSNV - 1/11