PMID: 30260075

SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver international : official journal of the International Association for the Study of the Liver
GS Steba, SM Koekkoek, MWT Tanck, JW Vanhommerig, JTM van der Meer, D Kwa, K Brinkman, M Prins, B Berkhout, G Pollakis, R Molenkamp, J Schinkel, WA Paxton,
2019-03

44 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-190040008-C-G CLDN1 c.1-13G>C - 5-UTRSNV 1/4 -
19-11227554-C-T LDLR c.1725C>T p.Leu575Leu Synonymous 12/18 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11242496-G-A LDLR c.*504G>A - 3-UTRSNV 18/18 -
3-190025964-C-T CLDN1 c.*102G>A - 3-UTRSNV 4/4 -
19-11242658-T-C LDLR c.*666T>C - 3-UTRSNV 18/18 -
19-11242658-T-A LDLR c.*666T>A - 3-UTRSNV 18/18 -
12-125348263-C-T SCARB1 c.4G>A p.Gly2Ser Missense 1/13 -
3-190040207-C-A CLDN1 c.1-212G>T - 5-UTRSNV 1/4 -
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
3-190024893-T-A CLDN1 c.*1173A>T - 3-UTRSNV 4/4 -
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
19-11242307-G-C LDLR c.*315G>C - 3-UTRSNV 18/18 -
3-190030680-A-G CLDN1 c.369T>C p.Gly123Gly Synonymous 2/4 -
3-190033808-G-A CLDN1 c.224-2983C>T - IntronicSNV - 1/3
3-190033808-G-C CLDN1 c.224-2983C>G - IntronicSNV - 1/3
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
3-190025677-C-A CLDN1 c.*389G>T - 3-UTRSNV 4/4 -
19-11170839-T-C SMARCA4 c.4887T>C p.Asp1629Asp Synonymous 34/35 -
3-190025618-A-G CLDN1 c.*448T>C - 3-UTRSNV 4/4 -
3-190030680-A-C CLDN1 c.369T>G p.Gly123Gly Synonymous 2/4 -
7-44555406-G-A NPC1L1 c.3873C>T p.Tyr1291Tyr Synonymous 19/20 -
3-190024856-G-A CLDN1 c.*1210C>T - 3-UTRSNV 4/4 -
12-125284748-A-G SCARB1 c.1050T>C p.Ala350Ala Synonymous 8/13 -
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
12-125284748-A-T SCARB1 c.1050T>A p.Ala350Ala Synonymous 8/13 -
3-190025805-G-T CLDN1 c.*261C>A - 3-UTRSNV 4/4 -
7-44553238-A-G NPC1L1 c.3888T>C p.Val1296Val Synonymous 20/20 -
7-44580876-G-T NPC1L1 c.1-18C>A - 5-UTRSNV 1/20 -
7-44580876-G-A NPC1L1 c.1-18C>T - 5-UTRSNV 1/20 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
9-107651174-T-C ABCA1 c.160+209A>G - IntronicSNV - 3/49
3-190023552-T-C CLDN1 c.*2514A>G - 3-UTRSNV 4/4 -
19-11242765-A-G LDLR c.*773A>G - 3-UTRSNV 18/18 -
3-190030680-A-T CLDN1 c.369T>A p.Gly123Gly Synonymous 2/4 -
3-190023837-A-C CLDN1 c.*2229T>G - 3-UTRSNV 4/4 -
3-190023837-A-G CLDN1 c.*2229T>C - 3-UTRSNV 4/4 -
3-190023837-A-T CLDN1 c.*2229T>A - 3-UTRSNV 4/4 -
19-11243160-G-A LDLR c.*1168G>A - 3-UTRSNV 18/18 -