PMID: 25134189

Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

The West Virginia medical journal
Y Dementieva, TL Green, DA Primerano, L Wei, J Denvir, P Wehner, S Dodson, MR Flood, BA Pollock, M Huff, C Hill, R Kreisberg, A Francis, K Morrison, H Blackwood, M Davis, HM Lee, S Warren,
2012

44 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-57009941-T-C CETP c.981+878T>C - IntronicSNV - 10/15
16-57002663-C-A CETP c.234-635C>A - IntronicSNV - 2/15
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
19-11227554-C-G LDLR c.1725C>G p.Leu575Leu Synonymous 12/18 -
19-11227554-C-A LDLR c.1725C>A p.Leu575Leu Synonymous 12/18 -
16-57005301-C-T CETP c.658+8C>T - IntronicSNV - 7/15
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
19-11236804-T-C LDLR c.2312-1880T>C - IntronicSNV - 15/17
19-11233939-C-A LDLR c.2230C>A p.Arg744Arg Synonymous 15/18 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
2-21259612-A-G APOB c.693+360T>C - IntronicSNV - 6/28
19-11238473-A-T LDLR c.2312-211A>T - IntronicSNV - 15/17
2-21225753-C-A APOB c.12541G>T p.Glu4181* Nonsense 29/29 -
16-57017002-T-G CETP c.1322-236T>G - IntronicSNV - 14/15
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
16-57002663-C-G CETP c.234-635C>G - IntronicSNV - 2/15
16-57002663-C-T CETP c.234-635C>T - IntronicSNV - 2/15
19-11238473-A-C LDLR c.2312-211A>C - IntronicSNV - 15/17
19-11238473-A-G LDLR c.2312-211A>G - IntronicSNV - 15/17
16-57017662-G-A CETP c.*84G>A - 3-UTRSNV 16/16 -
16-57009388-G-T CETP c.981+325G>T - IntronicSNV - 10/15
2-21244358-T-G APOB c.2816+1345A>C - IntronicSNV - 18/28
16-57009388-G-A CETP c.981+325G>A - IntronicSNV - 10/15
22-46598307-A-G PPARA c.208+3819A>G - IntronicSNV - 3/7
19-11227554-C-T LDLR c.1725C>T p.Leu575Leu Synonymous 12/18 -
19-11242658-T-A LDLR c.*666T>A - 3-UTRSNV 18/18 -
16-57016092-G-C CETP c.1264G>C p.Val422Leu Missense 14/16 -
19-11242658-T-C LDLR c.*666T>C - 3-UTRSNV 18/18 -
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
2-21225753-C-T APOB c.12541G>A p.Glu4181Lys Missense 29/29 -
7-150708089-A-G NOS3 c.2984+15A>G - IntronicSNV - 23/26
19-11238548-A-G LDLR c.2312-136A>G - IntronicSNV - 15/17
19-11233941-A-C LDLR c.2232A>C p.Arg744Arg Synonymous 15/18 -
16-57011185-G-A CETP c.982-818G>A - IntronicSNV - 10/15
16-57017474-G-A CETP c.1408-30G>A - IntronicSNV - 15/15
22-46631083-G-A PPARA c.1213G>A p.Val405Ile Missense 8/8 -
16-57009932-C-T CETP c.981+869C>T - IntronicSNV - 10/15
16-57007451-G-A CETP c.930+29G>A - IntronicSNV - 9/15
16-57005550-C-T CETP c.658+257C>T - IntronicSNV - 7/15
19-11233941-A-T LDLR c.2232A>T p.Arg744Arg Synonymous 15/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
17-18233923-C-G SHMT1 c.1117G>C p.Ala373Pro Missense 10/12 -
2-21227383-C-G APOB c.11903+50G>C - IntronicSNV - 27/28
19-11238548-A-T LDLR c.2312-136A>T - IntronicSNV - 15/17