PMID: 19041386

Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental gerontology
E Boes, S Coassin, B Kollerits, IM Heid, F Kronenberg
2009-03

121 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-58833703-G-C LIPC c.274-281G>C - IntronicSNV - 2/8
15-58833703-G-A LIPC c.274-281G>A - IntronicSNV - 2/8
11-116701535-T-C APOC3 c.102T>C p.Gly34Gly Synonymous 3/4 -
8-145550465-A-C DGAT1 c.1-166T>G - 5-UTRSNV 1/17 -
8-145550465-A-G DGAT1 c.1-166T>C - 5-UTRSNV 1/17 -
12-125284748-A-C SCARB1 c.1050T>G p.Ala350Ala Synonymous 8/13 -
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
19-11242658-T-C LDLR c.*666T>C - 3-UTRSNV 18/18 -
9-107645080-C-T ABCA1 c.421+240G>A - IntronicSNV - 5/49
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-11242658-T-A LDLR c.*666T>A - 3-UTRSNV 18/18 -
16-67976320-A-T LCAT c.694T>A p.Ser232Thr Missense 5/6 -
11-116661826-T-C APOA5 c.162-43A>G - IntronicSNV - 3/3
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
11-116728630-G-A SIK3 c.3407C>T - missense_variant 20/24 -
19-45477381-G-A CLPTM1 c.310-315G>A - IntronicSNV - 3/13
16-57017292-A-G CETP c.1376A>G p.Asp459Gly Missense 15/16 -
9-107593308-T-C ABCA1 c.1790A>G p.Gln597Arg Missense 14/50 -
9-107593308-T-A ABCA1 c.1790A>T p.Gln597Leu Missense 14/50 -
9-107586753-T-C ABCA1 c.2649A>G p.Ile883Met Missense 18/50 -
1-57143986-A-G PRKAA2 c.236+3791A>G - IntronicSNV - 2/8
11-116728630-G-T SIK3 c.3407C>A - missense_variant 20/24 -
15-58740588-C-A LIPC c.88+16269C>A - IntronicSNV - 1/8
12-125284748-A-T SCARB1 c.1050T>A p.Ala350Ala Synonymous 8/13 -
9-104499834-G-A GRIN3A c.428C>T p.Pro143Leu Missense 1/9 -
16-67976320-A-C LCAT c.694T>G p.Ser232Ala Missense 5/6 -
9-107665978-C-T ABCA1 c.1-18G>A - 5-UTRSNV 2/50 -
9-107620835-G-A ABCA1 c.688C>T p.Arg230Cys Missense 7/50 -
9-107579632-C-G ABCA1 c.3516G>C p.Glu1172Asp Missense 24/50 -
12-125284748-A-G SCARB1 c.1050T>C p.Ala350Ala Synonymous 8/13 -
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
19-11230881-T-A LDLR c.1959T>A p.Val653Val Synonymous 13/18 -
19-11230881-T-G LDLR c.1959T>G p.Val653Val Synonymous 13/18 -
6-12296255-G-T EDN1 c.594G>T p.Lys198Asn Missense 5/5 -
11-116708020-A-G APOA1 c.43+41T>C - IntronicSNV - 2/3
9-107562804-T-C ABCA1 c.4760A>G p.Lys1587Arg Missense 35/50 -
8-19819077-T-G LPL c.1322+483T>G - IntronicSNV - 8/9
8-19819077-T-A LPL c.1322+483T>A - IntronicSNV - 8/9
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
16-57007451-G-A CETP c.930+29G>A - IntronicSNV - 9/15
11-123596703-A-T ZNF202 c.*2T>A - 3-UTRSNV 9/9 -
12-125302217-T-G SCARB1 c.163A>C p.Met55Leu Missense 2/13 -
12-125302217-T-A SCARB1 c.163A>T p.Met55Leu Missense 2/13 -
9-104362937-A-G GRIN3A c.2766+12721T>C - IntronicSNV - 6/8
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
8-19824492-T-A LPL c.*1671T>A - 3-UTRSNV 10/10 -
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
8-19820405-G-A LPL c.1427+675G>A - IntronicSNV - 9/9
11-47280762-G-A NR1H3 c.1-6G>A - 5-UTRSNV 2/9 -
15-58742731-T-G LIPC c.88+18412T>G - IntronicSNV - 1/8
3-10328809-T-C GHRL c.226-313A>G - IntronicSNV - 4/5
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
11-116708254-G-A APOA1 c.-21+67C>T - intron_variant - 1/3
16-57017319-G-A CETP c.1403G>A p.Arg468Gln Missense 15/16 -
11-123596703-A-C ZNF202 c.*2T>G - 3-UTRSNV 9/9 -
12-125348263-C-T SCARB1 c.4G>A p.Gly2Ser Missense 1/13 -
3-10332926-C-G GHRL c.-556G>C - 5_prime_UTR_variant 2/6 -
15-58740588-C-T LIPC c.88+16269C>T - IntronicSNV - 1/8
12-110017630-AC-TG MVK c.250_251delACinsTG p.Thr84Cys Missense 4/11 -
15-58732468-G-A LIPC c.88+8149G>A - IntronicSNV - 1/8
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
9-107620867-C-T ABCA1 c.656G>A p.Arg219Lys Missense 7/50 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
9-107589255-C-T ABCA1 c.2311G>A p.Val771Met Missense 16/50 -
11-116703640-G-C APOC3 c.*40G>C - 3-UTRSNV 4/4 -
1-230372427-G-A GALNT2 c.563G>A p.Gly188Glu Missense 6/16 -
9-107588033-C-T ABCA1 c.2473G>A p.Val825Ile Missense 17/50 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
8-19824492-T-C LPL c.*1671T>C - 3-UTRSNV 10/10 -
15-58853079-C-T LIPC c.1068C>T p.Phe356Phe Synonymous 7/9 -
16-57005257-T-A CETP c.622T>A p.Ser208Thr Missense 7/16 -
11-116661488-C-T APOA5 c.457G>A p.Val153Met Missense 4/4 -
3-10328453-T-A GHRL c.269A>T p.Gln90Leu Missense 5/6 -
16-57016092-G-C CETP c.1264G>C p.Val422Leu Missense 14/16 -
11-116700777-G-C APOC3 c.-14+121G>C - intron_variant - 1/3
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
18-47102002-T-C LIPG c.793+42T>C - IntronicSNV - 5/9
8-19816832-G-T LPL c.1080G>T p.Gln360His Missense 7/10 -
16-67976417-G-A LCAT c.597C>T p.Val199Val Synonymous 5/6 -
8-19816832-G-C LPL c.1080G>C p.Gln360His Missense 7/10 -
11-116691675-T-A APOA4 c.1099A>T p.Thr367Ser Missense 3/3 -
11-116691675-T-C APOA4 c.1099A>G p.Thr367Ala Missense 3/3 -
8-19815189-C-T LPL c.1019-1582C>T - IntronicSNV - 6/9
19-11242765-A-G LDLR c.*773A>G - 3-UTRSNV 18/18 -
11-116708413-C-T APOA1 c.-113G>A - 5_prime_UTR_variant 1/4 -
18-47117374-A-G LIPG c.*482A>G - 3-UTRSNV 10/10 -
3-10331457-G-T GHRL c.214C>A p.Leu72Met Missense 4/6 -
16-67985706-C-A SLC12A4 c.1132+20G>T - IntronicSNV - 8/23
15-58853079-C-A LIPC c.1068C>A p.Phe356Leu Missense 7/9 -
16-67985706-C-T SLC12A4 c.1132+20G>A - IntronicSNV - 8/23
9-107665978-C-A ABCA1 c.1-18G>T - 5-UTRSNV 2/50 -
3-10332365-T-G GHRL c.-30+35A>C - intron_variant - 2/5
19-45489728-G-A CLPTM1 c.688G>A p.Gly230Arg Missense 7/14 -
19-45489728-G-C CLPTM1 c.688G>C p.Gly230Arg Missense 7/14 -
11-116728630-G-C SIK3 c.3407C>G - missense_variant 20/24 -
9-107665978-C-G ABCA1 c.1-18G>C - 5-UTRSNV 2/50 -
3-10332352-G-A GHRL c.1-488C>T - IntronicSNV 2/6 -
3-10333364-C-G GHRL c.-765-229G>C - intron_variant - 1/5
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 -
18-47093864-C-T LIPG c.332C>T p.Thr111Ile Missense 3/10 -
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
22-46614274-C-G PPARA c.484C>G p.Leu162Val Missense 5/8 -
7-80259280-A-G CD36 c.1-16777A>G - IntronicSNV - 1/13
18-47113008-C-T LIPG c.1377-108C>T - IntronicSNV - 8/9
11-116691634-C-A APOA4 c.1140G>T p.Gln380His Missense 3/3 -
9-107666037-C-CC ABCA1 c.1-76_1-76dup - 5-UTRInsertion 2/50 -
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
15-58853143-GGA-TGT LIPC c.1132_1134delGGAinsTGT p.Gly378Cys Missense 7/9 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
8-19819439-A-G LPL c.1323-187A>G - IntronicSNV - 8/9
9-107600168-A-G ABCA1 c.1055-320T>C - IntronicSNV - 9/49
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
12-125299542-C-T SCARB1 c.403G>A p.Val135Ile Missense 3/13 -
11-116661392-C-A APOA5 c.553G>T p.Gly185Cys Missense 4/4 -