PMID: 31039173

Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism.

PloS one

AD Howard, X Wang, M Prasad, AD Sahu, R Aniba, M Miller, S Hannenhalli, YC Chang

2019

24 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
9-107657070-G-A	ABCA1	c.67-5594C>T	-	IntronicSNV	-	2/49
9-107647220-C-T	ABCA1	c.161-371G>A	-	IntronicSNV	-	3/49
9-107588033-C-T	ABCA1	c.2473G>A	p.Val825Ile	Missense	17/50	-
1-230294715-C-A	GALNT2	c.127-19249C>A	-	IntronicSNV	-	1/15
9-107648519-T-C	ABCA1	c.161-1670A>G	-	IntronicSNV	-	3/49
9-107662494-G-A	ABCA1	c.66+3401C>T	-	IntronicSNV	-	2/49
11-116662331-G-T	APOA5	c.132C>A	p.Ile44Ile	Synonymous	3/4	-
1-230294916-C-T	GALNT2	c.127-19048C>T	-	IntronicSNV	-	1/15
1-230294715-C-T	GALNT2	c.127-19249C>T	-	IntronicSNV	-	1/15
19-45395619-A-G	TOMM40	c.275-31A>G	-	IntronicSNV	-	2/9
1-230304988-A-G	GALNT2	c.127-8976A>G	-	IntronicSNV	-	1/15
1-230304988-A-C	GALNT2	c.127-8976A>C	-	IntronicSNV	-	1/15
16-67977382-T-C	LCAT	c.155-267A>G	-	IntronicSNV	-	1/5
11-116619073-C-G	BUD13	c.*125G>C	-	3-UTRSNV	10/10	-
9-107647655-G-A	ABCA1	c.161-806C>T	-	IntronicSNV	-	3/49
11-116619073-C-T	BUD13	c.*125G>A	-	3-UTRSNV	10/10	-
1-230295307-C-G	GALNT2	c.127-18657C>G	-	IntronicSNV	-	1/15
1-230295307-C-A	GALNT2	c.127-18657C>A	-	IntronicSNV	-	1/15
9-15296034-C-A	TTC39B	c.240+11048G>T	-	IntronicSNV	-	1/19
9-107647655-G-T	ABCA1	c.161-806C>A	-	IntronicSNV	-	3/49
1-230295691-G-A	GALNT2	c.127-18273G>A	-	IntronicSNV	-	1/15
1-230297136-C-T	GALNT2	c.127-16828C>T	-	IntronicSNV	-	1/15
11-116652207-C-T	ZPR1	c.1179+667G>A	-	IntronicSNV	-	12/13
16-67708897-A-G	GFOD2	c.*161T>C	-	3-UTRSNV	3/3	-