PMID: 20421590

Genetic causes of high and low serum HDL-cholesterol.

Journal of lipid research
D Weissglas-Volkov, P Pajukanta
2010-08

47 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
20-44540692-C-A PLTP c.-12+26G>T - intron_variant - 1/15
20-44540692-C-G PLTP c.-12+26G>C - intron_variant - 1/15
18-47113008-C-T LIPG c.1377-108C>T - IntronicSNV - 8/9
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
11-116728630-G-C SIK3 c.3407C>G - missense_variant 20/24 -
8-19805708-G-C LPL c.106G>C p.Asp36His Missense 2/10 -
8-19805708-G-A LPL c.106G>A p.Asp36Asn Missense 2/10 -
9-107620835-G-A ABCA1 c.688C>T p.Arg230Cys Missense 7/50 -
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
12-109999617-G-A MMAB c.389C>T p.Thr130Ile Missense 5/9 -
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
11-116728630-G-T SIK3 c.3407C>A - missense_variant 20/24 -
3-136391195-A-G STAG1 c.1-41455T>C - IntronicSNV - 1/33
3-136391195-A-C STAG1 c.1-41455T>G - IntronicSNV - 1/33
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
11-116728630-G-A SIK3 c.3407C>T - missense_variant 20/24 -
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
12-124475156-A-G ZNF664 c.-661+2471A>G - intron_variant - 3/4
19-8429323-G-A ANGPTL4 c.118G>A p.Glu40Lys Missense 1/7 -
20-44534909-G-A PLTP c.703C>T p.Arg235Trp Missense 8/16 -
11-61557803-T-C TMEM258 c.113+162A>G - IntronicSNV - 2/3
11-116772787-C-A SIK3 c.617-4754G>T - intron_variant - 4/23
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
9-107642287-C-T ABCA1 c.421+3033G>A - IntronicSNV - 5/49
17-66439605-T-C WIPI1 c.430+1029A>G - IntronicSNV - 4/12
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
1-161200487-C-G NR1I3 c.932+116G>C - IntronicSNV - 8/8
9-107642287-C-G ABCA1 c.421+3033G>C - IntronicSNV - 5/49
6-133004444-GC-AA VNN1 c.1376_1377delGCinsAA p.Arg459Gln Missense 7/7 -
1-161200487-C-A NR1I3 c.932+116G>T - IntronicSNV - 8/8
1-161200487-C-T NR1I3 c.932+116G>A - IntronicSNV - 8/8
2-44066174-T-G ABCG8 c.1-19T>G - 5-UTRSNV 1/13 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
2-44066174-T-A ABCG8 c.1-19T>A - 5-UTRSNV 1/13 -
16-57016092-G-A CETP c.1264G>A p.Val422Ile Missense 14/16 -
16-57016092-G-C CETP c.1264G>C p.Val422Leu Missense 14/16 -
12-109909011-A-C KCTD10 c.4-1478T>G - IntronicSNV - 1/6
12-109909011-A-G KCTD10 c.4-1478T>C - IntronicSNV - 1/6