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 -