PMID: 30518135

Vitamin E Metabolic Effects and Genetic Variants: A Challenge for Precision Nutrition in Obesity and Associated Disturbances.

Nutrients
S Galm├ęs, F Serra, A Palou
2018-12-04

37 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-107584351-T-C ABCA1 c.2828+426A>G - IntronicSNV - 19/49
9-107602678-G-T ABCA1 c.936C>A p.Pro312Pro Synonymous 9/50 -
12-125307053-G-A SCARB1 c.127-4800C>T - IntronicSNV - 1/12
7-44578696-C-T NPC1L1 c.1300G>A p.Gly434Arg Missense 2/20 -
2-21225753-C-T APOB c.12541G>A p.Glu4181Lys Missense 29/29 -
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
1-206946897-T-C IL19 c.-35+2474T>C - intron_variant - 1/6
12-125348263-C-T SCARB1 c.4G>A p.Gly2Ser Missense 1/13 -
10-69675158-A-G SIRT1 c.1916-864A>G - IntronicSNV - 8/8
2-21225753-C-A APOB c.12541G>T p.Glu4181* Nonsense 29/29 -
9-107647019-C-T ABCA1 c.161-170G>A - IntronicSNV - 3/49
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
21-43708414-A-T ABCG1 c.1249A>T p.Arg417Trp Missense 10/15 -
7-44578696-C-A NPC1L1 c.1300G>T p.Gly434* Nonsense 2/20 -
7-44578792-C-T NPC1L1 c.1204G>A p.Gly402Ser Missense 2/20 -
11-67352689-A-G GSTP1 c.313A>G p.Ile105Val Missense 5/7 -
11-116708413-C-T APOA1 c.-113G>A - 5_prime_UTR_variant 1/4 -
19-16008388-A-C CYP4F2 c.34T>G p.Trp12Gly Missense 2/13 -
9-107604104-A-G ABCA1 c.814-1304T>C - IntronicSNV - 8/49
22-19945177-A-G COMT c.-91-3545A>G - intron_variant - 1/5
12-125284748-A-C SCARB1 c.1050T>G p.Ala350Ala Synonymous 8/13 -
19-15990431-C-T CYP4F2 c.1297G>A p.Val433Met Missense 11/13 -
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
9-113016885-T-C TXN c.24+1807A>G - IntronicSNV - 1/3
10-69753620-C-T HERC4 c.1070-1181G>A - IntronicSNV - 9/24
7-44578812-G-A NPC1L1 c.1184C>T p.Ala395Val Missense 2/20 -
9-107602678-G-A ABCA1 c.936C>T p.Pro312Pro Synonymous 9/50 -
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
7-44578747-G-A NPC1L1 c.1249C>T p.Arg417Trp Missense 2/20 -
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
7-80272568-T-C CD36 c.-183-2836T>C - intron_variant - 1/13
7-80272568-T-A CD36 c.-183-2836T>A - intron_variant - 1/13
18-21140432-T-C NPC1 c.644A>G p.His215Arg Missense 6/25 -
12-125284748-A-G SCARB1 c.1050T>C p.Ala350Ala Synonymous 8/13 -
7-80244939-G-A CD36 c.-184+13244G>A - intron_variant - 1/13
12-125284748-A-T SCARB1 c.1050T>A p.Ala350Ala Synonymous 8/13 -