PMID: 26836265

Association of Forced Vital Capacity with the Developmental Gene NCOR2.

PloS one
C Minelli, CH Dean, M Hind, AC Alves, AF Amaral, V Siroux, V Huikari, M Soler Artigas, DM Evans, DW Loth, Y Bossé, DS Postma, D Sin, J Thompson, F Demenais, J Henderson, , , E Bouzigon, D Jarvis, MR Järvelin, P Burney
2016

26 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-68694307-C-A WLS c.106+3570G>T - IntronicSNV - 1/11
1-68694307-C-T WLS c.106+3570G>A - IntronicSNV - 1/11
1-236902560-C-G ACTN2 c.877-42C>G - IntronicSNV - 9/20
2-80181443-G-A CTNNA2 c.1056+44520G>A - IntronicSNV - 7/17
20-33844938-A-C MMP24 c.817+2381A>C - IntronicSNV - 4/8
20-60058986-C-T CDH4 c.169+228993C>T - IntronicSNV - 2/15
10-79553236-A-C DLG5 c.5656+530T>G - IntronicSNV - 31/31
7-42245499-C-T GLI3 c.124+17230G>A - IntronicSNV - 2/14
3-25552252-G-T RARB c.448+9438G>T - IntronicSNV - 3/7
1-201256771-G-A PKP1 c.202+3739G>A - IntronicSNV - 1/14
1-201256771-G-T PKP1 c.202+3739G>T - IntronicSNV - 1/14
11-103797349-G-A PDGFD c.987+291C>T - IntronicSNV - 6/6
1-236902560-C-T ACTN2 c.877-42C>T - IntronicSNV - 9/20
16-31132250-A-G KAT8 c.462+415A>G - IntronicSNV - 3/10
22-33224285-C-T TIMP3 c.122-21154C>T - IntronicSNV - 1/4
7-116200587-C-T CAV1 c.*1246C>T - 3-UTRSNV 3/3 -
8-72216430-T-C EYA1 c.557-4475A>G - IntronicSNV - 7/17
7-120976886-A-G WNT16 c.634-2049A>G - IntronicSNV - 3/3
3-189582501-A-T TP63 c.766+294A>T - IntronicSNV - 5/13
3-189582501-A-G TP63 c.766+294A>G - IntronicSNV - 5/13
7-37948714-G-A SFRP4 c.855+505C>T - IntronicSNV - 5/5
6-13590185-A-G SIRT5 c.249+1489A>G - IntronicSNV - 4/8
12-124875577-C-T NCOR2 c.1877-5144G>A - IntronicSNV - 18/48
7-121002328-T-G FAM3C c.382+623A>C - IntronicSNV - 7/9
7-121002328-T-A FAM3C c.382+623A>T - IntronicSNV - 7/9
18-48586184-A-G SMAD4 c.905-52A>G - IntronicSNV - 7/11