PMID: 29990020

Bayesian Network Construction and Genotype-Phenotype Inference Using GWAS Statistics.

IEEE/ACM transactions on computational biology and bioinformatics
L Zhang, Q Pan, Y Wang, X Wu, X Shi
2019

38 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-55979964-A-G ERC2 c.2403+4489T>C - IntronicSNV - 13/17
3-55979964-A-T ERC2 c.2403+4489T>A - IntronicSNV - 13/17
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
5-38868472-C-T OSMR c.1-675C>T - IntronicSNV - 1/17
18-53210302-G-T TCF4 c.145+42209C>A - IntronicSNV - 3/19
7-45932669-A-G IGFBP1 c.759A>G p.Ile253Met Missense 4/4 -
8-11157460-T-G MTMR9 c.292-72T>G - IntronicSNV - 2/9
8-11281273-A-T FAM167A c.*609T>A - 3-UTRSNV 3/3 -
10-14016290-G-A FRMD4A c.46-115378C>T - IntronicSNV - 2/24
8-11281273-A-G FAM167A c.*609T>C - 3-UTRSNV 3/3 -
6-32605884-C-T HLA-DQA1 c.82+567C>T - IntronicSNV - 1/4
1-32501215-A-G KHDRBS1 c.772-1296A>G - IntronicSNV - 4/8
8-11157460-T-C MTMR9 c.292-72T>C - IntronicSNV - 2/9
8-10629061-G-T PINX1 c.472-5635C>A - IntronicSNV - 6/6
8-10629061-G-C PINX1 c.472-5635C>G - IntronicSNV - 6/6
3-124804204-A-C SLC12A8 c.1983-1308T>G - IntronicSNV - 13/13
10-14021822-G-A FRMD4A c.46-120910C>T - IntronicSNV - 2/24
1-67648596-G-A IL23R c.445G>A p.Gly149Arg Missense 4/11 -
8-10632684-G-A PINX1 c.472-9258C>T - IntronicSNV - 6/6
3-65760342-T-C MAGI1 c.314-152579A>G - IntronicSNV - 1/22
15-74219582-G-T LOXL1 c.458G>T p.Gly153Val Missense 1/7 -
15-74219582-G-C LOXL1 c.458G>C p.Gly153Ala Missense 1/7 -
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
15-74219582-G-A LOXL1 c.458G>A p.Gly153Asp Missense 1/7 -
7-40847909-G-A SUGCT c.1142-52006G>A - IntronicSNV - 14/14
2-239799547-A-C TWIST2 c.*168+4442A>C - intron_variant - 9/9
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
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 -
2-228864662-C-T SPHKAP c.4449-4252G>A - IntronicSNV - 7/10
15-66420236-G-T MEGF11 c.98+408C>A - IntronicSNV - 2/22
15-74229195-G-A LOXL1 c.1103-6000G>A - IntronicSNV - 1/6
20-3185123-A-T DDRGK1 c.91+60T>A - IntronicSNV - 1/8
20-3185123-A-C DDRGK1 c.91+60T>G - IntronicSNV - 1/8
5-96118866-C-G ERAP1 c.2174G>C p.Arg725Pro Missense 15/20 -
5-96118866-C-T ERAP1 c.2174G>A p.Arg725Gln Missense 15/20 -
10-99304801-C-T UBTD1 c.71-22870C>T - IntronicSNV - 1/2