PMID: 25920552

Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

European journal of human genetics : EJHG
S Rodriguez, TR Gaunt, Y Guo, J Zheng, MR Barnes, W Tang, F Danish, A Johnson, BA Castillo, YR Li, H Hakonarson, SG Buxbaum, T Palmer, MY Tsai, LA Lange, S Ebrahim, G Davey Smith, DA Lawlor, AR Folsom, R Hoogeveen, A Reiner, B Keating, IN Day
2016-01

32 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
22-38518538-G-A PLA2G6 c.1429+564C>T - IntronicSNV - 10/15
2-44047530-C-G ABCG5 c.1464-291G>C - IntronicSNV - 10/12
8-59412066-T-G CYP7A1 c.80+512A>C - IntronicSNV - 1/5
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
1-55507285-T-C PCSK9 c.207+1568T>C - IntronicSNV - 1/11
2-44042904-C-A ABCG5 c.1650-1176G>T - IntronicSNV - 11/12
2-44047530-C-T ABCG5 c.1464-291G>A - IntronicSNV - 10/12
2-44043135-T-G ABCG5 c.1650-1407A>C - IntronicSNV - 11/12
22-38546033-T-A PLA2G6 c.210-4373A>T - IntronicSNV - 2/15
22-38546033-T-C PLA2G6 c.210-4373A>G - IntronicSNV - 2/15
9-15304782-C-A TTC39B c.240+2300G>T - IntronicSNV - 1/19
2-44048346-C-T ABCG5 c.1464-1107G>A - IntronicSNV - 10/12
2-44074000-G-A ABCG8 c.322+550G>A - IntronicSNV - 3/12
2-44039839-C-T ABCG5 c.*416G>A - 3-UTRSNV 13/13 -
2-44066247-G-C ABCG8 c.55G>C p.Asp19His Missense 1/13 -
2-44046585-T-C ABCG5 c.1649+469A>G - IntronicSNV - 11/12
9-15297629-G-A TTC39B c.240+9453C>T - IntronicSNV - 1/19
15-58737135-G-C LIPC c.88+12816G>C - IntronicSNV - 1/8
2-44104925-T-A ABCG8 c.1895T>A p.Val632Asp Missense 13/13 -
2-44040401-G-C ABCG5 c.1810C>G p.Gln604Glu Missense 13/13 -
2-44104925-T-G ABCG8 c.1895T>G p.Val632Gly Missense 13/13 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
2-44104925-T-C ABCG8 c.1895T>C p.Val632Ala Missense 13/13 -
2-44067169-G-A ABCG8 c.63+914G>A - IntronicSNV - 1/12
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
2-44043393-G-A ABCG5 c.1650-1665C>T - IntronicSNV - 11/12
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
2-44043135-T-A ABCG5 c.1650-1407A>T - IntronicSNV - 11/12
2-44071743-A-G ABCG8 c.161A>G p.Tyr54Cys Missense 2/13 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
2-44080324-A-G ABCG8 c.964+317A>G - IntronicSNV - 6/12