PMID: 29120899

Association of a 3' untranslated region polymorphism in proprotein convertase subtilisin/kexin type 9 with HIV viral load and CD4+ levels in HIV/hepatitis C virus coinfected women.

AIDS (London, England)

MH Kuniholm, H Liang, K Anastos, D Gustafson, S Kassaye, M Nowicki, BE Sha, EJ Pawlowski, SJ Gange, BE Aouizerat, T Pushkarsky, MI Bukrinsky, VR Prasad

2017-11-28

233 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
9-107624242-A-G	ABCA1	c.422-161T>C	-	IntronicSNV	-	5/49
6-46612479-A-G	CYP39A1	c.178-2444T>C	-	IntronicSNV	-	1/11
9-137265191-G-A	RXRA	c.29-28287G>A	-	IntronicSNV	-	1/9
16-57007451-G-A	CETP	c.930+29G>A	-	IntronicSNV	-	9/15
9-107680730-G-A	ABCA1	c.-93+9486C>T	-	intron_variant	-	1/49
12-125318371-C-T	SCARB1	c.127-16118G>A	-	IntronicSNV	-	1/12
9-137285503-A-G	RXRA	c.29-7975A>G	-	IntronicSNV	-	1/9
2-215827145-T-C	ABCA12	c.5885-3343A>G	-	IntronicSNV	-	39/52
1-55529871-C-T	PCSK9	c.*614C>T	-	3-UTRSNV	12/12	-
16-57010382-T-G	CETP	c.981+1319T>G	-	IntronicSNV	-	10/15
6-46555473-C-T	CYP39A1	c.1101+298G>A	-	IntronicSNV	-	9/11
16-57003846-C-A	CETP	c.460C>A	p.Arg154Arg	Synonymous	5/16	-
1-55529871-C-G	PCSK9	c.*614C>G	-	3-UTRSNV	12/12	-
12-124844986-T-A	NCOR2	c.3100+1686A>T	-	IntronicSNV	-	24/48
9-107607212-T-C	ABCA1	c.813+546A>G	-	IntronicSNV	-	8/49
6-46613083-T-C	CYP39A1	c.178-3048A>G	-	IntronicSNV	-	1/11
9-107661049-C-T	ABCA1	c.66+4846G>A	-	IntronicSNV	-	2/49
6-46605342-G-A	CYP39A1	c.578+224C>T	-	IntronicSNV	-	4/11
9-107626108-G-A	ABCA1	c.422-2027C>T	-	IntronicSNV	-	5/49
2-215825759-C-G	ABCA12	c.5885-1957G>C	-	IntronicSNV	-	39/52
6-46613941-T-C	CYP39A1	c.178-3906A>G	-	IntronicSNV	-	1/11
21-43642438-C-G	ABCG1	c.75+2282C>G	-	IntronicSNV	-	1/14
2-215825759-C-T	ABCA12	c.5885-1957G>A	-	IntronicSNV	-	39/52
2-215825759-C-A	ABCA12	c.5885-1957G>T	-	IntronicSNV	-	39/52
12-125039304-C-T	NCOR2	c.-165+12550G>A	-	intron_variant	-	1/48
13-103698110-G-C	SLC10A2	c.*373C>G	-	3-UTRSNV	6/6	-
9-15177020-C-T	TTC39B	c.1841+675G>A	-	IntronicSNV	-	18/19
12-124844986-T-C	NCOR2	c.3100+1686A>G	-	IntronicSNV	-	24/48
2-215812623-G-A	ABCA12	c.7105-343C>T	-	IntronicSNV	-	47/52
12-125344241-C-T	SCARB1	c.126+3900G>A	-	IntronicSNV	-	1/12
2-215903023-T-A	ABCA12	c.873-1234A>T	-	IntronicSNV	-	7/52
11-47300535-A-G	MADD	c.1210-15A>G	-	IntronicSNV	-	6/32
9-15280243-A-G	TTC39B	c.241-12297T>C	-	IntronicSNV	-	1/19
12-110020894-G-A	MVK	c.527+1539G>A	-	IntronicSNV	-	5/10
12-110020894-G-T	MVK	c.527+1539G>T	-	IntronicSNV	-	5/10
19-11238548-A-T	LDLR	c.2312-136A>T	-	IntronicSNV	-	15/17
12-124894184-T-C	NCOR2	c.1483-7077A>G	-	IntronicSNV	-	15/48
12-124894184-T-G	NCOR2	c.1483-7077A>C	-	IntronicSNV	-	15/48
9-137269570-C-A	RXRA	c.29-23908C>A	-	IntronicSNV	-	1/9
13-103705050-G-A	SLC10A2	c.505C>T	p.Leu169Leu	Synonymous	3/6	-
9-107577534-G-T	ABCA1	c.3739-778C>A	-	IntronicSNV	-	25/49
19-11238548-A-G	LDLR	c.2312-136A>G	-	IntronicSNV	-	15/17
6-46605779-A-C	CYP39A1	c.429-64T>G	-	IntronicSNV	-	3/11
9-107632805-G-A	ABCA1	c.422-8724C>T	-	IntronicSNV	-	5/49
12-124970095-C-T	NCOR2	c.233+892G>A	-	IntronicSNV	-	4/48
12-125007666-T-G	NCOR2	c.-118+12445A>C	-	intron_variant	-	2/48
9-107543891-C-T	ABCA1	c.*2705G>A	-	3-UTRSNV	50/50	-
12-124984488-A-G	NCOR2	c.1-4691T>C	-	IntronicSNV	-	2/48
12-124878404-G-A	NCOR2	c.1876+4261C>T	-	IntronicSNV	-	18/48
9-137268177-C-A	RXRA	c.29-25301C>A	-	IntronicSNV	-	1/9
9-107672498-G-A	ABCA1	c.1-6538C>T	-	IntronicSNV	-	1/49
9-107577946-G-A	ABCA1	c.3738+478C>T	-	IntronicSNV	-	25/49
12-125003996-T-C	NCOR2	c.-118+16115A>G	-	intron_variant	-	2/48
9-15187801-G-A	TTC39B	c.1395+168C>T	-	IntronicSNV	-	14/19
1-55538552-T-G	USP24	c.7527-18A>C	-	IntronicSNV	-	64/67
12-124843999-A-G	NCOR2	c.3101-2671T>C	-	IntronicSNV	-	24/48
13-103702947-T-C	SLC10A2	c.761+660A>G	-	IntronicSNV	-	4/5
12-125268432-G-A	SCARB1	c.1402-1075C>T	-	IntronicSNV	-	11/12
12-124867996-G-T	NCOR2	c.2019+2295C>A	-	IntronicSNV	-	19/48
13-103704403-A-G	SLC10A2	c.585+567T>C	-	IntronicSNV	-	3/5
2-215903023-T-C	ABCA12	c.873-1234A>G	-	IntronicSNV	-	7/52
2-215901252-G-T	ABCA12	c.985+425C>A	-	IntronicSNV	-	8/52
6-46613941-T-G	CYP39A1	c.178-3906A>C	-	IntronicSNV	-	1/11
13-103702733-G-A	SLC10A2	c.761+874C>T	-	IntronicSNV	-	4/5
12-124799416-G-A	RFLNA	c.*345G>A	-	3-UTRSNV	3/3	-
12-124841318-G-A	NCOR2	c.3111C>T	p.Ala1037Ala	Synonymous	25/49	-
6-46620135-C-T	CYP39A1	c.177+8G>A	-	IntronicSNV	-	1/11
2-215906723-G-A	ABCA12	c.872+3838C>T	-	IntronicSNV	-	7/52
12-124862697-G-A	NCOR2	c.2167+86C>T	-	IntronicSNV	-	20/48
16-56997369-A-T	CETP	c.233+333A>T	-	IntronicSNV	-	2/15
6-46626353-A-G	SLC25A27	c.299-346A>G	-	IntronicSNV	-	2/8
9-107666513-T-G	ABCA1	c.1-553A>C	-	IntronicSNV	-	1/49
12-125295383-T-C	SCARB1	c.727-548A>G	-	IntronicSNV	-	5/12
1-55529828-C-T	PCSK9	c.*571C>T	-	3-UTRSNV	12/12	-
17-15932425-T-C	TTC19	c.*1589T>C	-	3-UTRSNV	10/10	-
17-15932425-T-G	TTC19	c.*1589T>G	-	3-UTRSNV	10/10	-
9-15270545-C-T	TTC39B	c.241-2599G>A	-	IntronicSNV	-	1/19
12-125003871-G-A	NCOR2	c.-118+16240C>T	-	intron_variant	-	2/48
12-110006577-A-G	MMAB	c.288T>C	p.Ile96Ile	Synonymous	3/9	-
6-46618800-A-G	CYP39A1	c.177+1343T>C	-	IntronicSNV	-	1/11
2-215901426-A-G	ABCA12	c.985+251T>C	-	IntronicSNV	-	8/52
6-46575449-T-C	CYP39A1	c.872-11592A>G	-	IntronicSNV	-	7/11
12-125032798-C-T	NCOR2	c.-164-12641G>A	-	intron_variant	-	1/48
2-215812920-A-G	ABCA12	c.7104+400T>C	-	IntronicSNV	-	47/52
9-107584791-C-G	ABCA1	c.2814G>C	p.Gly938Gly	Synonymous	19/50	-
9-107584791-C-T	ABCA1	c.2814G>A	p.Gly938Gly	Synonymous	19/50	-
12-125269323-A-C	SCARB1	c.1401+1580T>G	-	IntronicSNV	-	11/12
17-16003019-C-T	NCOR1	c.2691-1209G>A	-	IntronicSNV	-	20/45
12-125337670-G-T	SCARB1	c.126+10471C>A	-	IntronicSNV	-	1/12
12-125031404-G-C	NCOR2	c.-164-11247C>G	-	intron_variant	-	1/48
12-125031404-G-A	NCOR2	c.-164-11247C>T	-	intron_variant	-	1/48
9-107679500-C-A	ABCA1	c.-93+10716G>T	-	intron_variant	-	1/49
9-15288159-T-C	TTC39B	c.240+18923A>G	-	IntronicSNV	-	1/19
17-16094877-A-G	NCOR1	c.108+2899T>C	-	IntronicSNV	-	2/45
9-137326408-A-G	RXRA	c.1241+355A>G	-	IntronicSNV	-	9/9
9-107567802-A-G	ABCA1	c.4464+720T>C	-	IntronicSNV	-	31/49
12-124997573-G-A	NCOR2	c.1-17776C>T	-	IntronicSNV	-	2/48
12-110002777-C-T	MMAB	c.348+147G>A	-	IntronicSNV	-	4/8
12-125344241-C-A	SCARB1	c.126+3900G>T	-	IntronicSNV	-	1/12
12-125304917-T-C	SCARB1	c.127-2664A>G	-	IntronicSNV	-	1/12
12-125034350-G-A	NCOR2	c.-164-14193C>T	-	intron_variant	-	1/48
12-124989655-T-C	NCOR2	c.1-9858A>G	-	IntronicSNV	-	2/48
21-43715801-T-C	ABCG1	c.1806-473T>C	-	IntronicSNV	-	14/14
9-15287389-G-A	TTC39B	c.241-19443C>T	-	IntronicSNV	-	1/19
2-215884677-A-G	ABCA12	c.1288-157T>C	-	IntronicSNV	-	11/52
9-107596411-C-A	ABCA1	c.1312-1359G>T	-	IntronicSNV	-	11/49
17-17747251-C-T	TOM1L2	c.*3698G>A	-	3-UTRSNV	14/14	-
9-107599329-T-G	ABCA1	c.1243A>C	p.Met415Leu	Missense	11/50	-
9-137311995-G-A	RXRA	c.781-1527G>A	-	IntronicSNV	-	5/9
17-16061823-G-A	NCOR1	c.732+251C>T	-	IntronicSNV	-	6/45
1-55524816-G-A	PCSK9	c.1504-343G>A	-	IntronicSNV	-	9/11
9-15277123-A-G	TTC39B	c.241-9177T>C	-	IntronicSNV	-	1/19
12-125004392-C-T	NCOR2	c.-118+15719G>A	-	intron_variant	-	2/48
12-124809541-C-T	NCOR2	c.*407G>A	-	3-UTRSNV	49/49	-
16-57017319-G-A	CETP	c.1403G>A	p.Arg468Gln	Missense	15/16	-
12-124809541-C-G	NCOR2	c.*407G>C	-	3-UTRSNV	49/49	-
9-15189045-T-A	TTC39B	c.1233+527A>T	-	IntronicSNV	-	13/19
9-107537257-G-A	NIPSNAP3B	c.*1903G>A	-	IntergenicSNV	6/6	-
1-55524237-G-A	PCSK9	c.1420G>A	p.Val474Ile	Missense	9/12	-
9-107678278-C-T	ABCA1	c.-93+11938G>A	-	intron_variant	-	1/49
12-124883884-C-T	NCOR2	c.1814-1157G>A	-	IntronicSNV	-	17/48
12-110013879-G-A	MVK	c.155G>A	p.Ser52Asn	Missense	3/11	-
12-124883884-C-G	NCOR2	c.1814-1157G>C	-	IntronicSNV	-	17/48
21-43674122-G-C	ABCG1	c.320-17058G>C	-	IntronicSNV	-	2/14
12-124811668-C-G	NCOR2	c.7183+287G>C	-	IntronicSNV	-	47/48
9-15252972-G-A	TTC39B	c.275+14940C>T	-	IntronicSNV	-	2/19
1-55521313-G-T	PCSK9	c.800-353G>T	-	IntronicSNV	-	5/11
12-124811668-C-T	NCOR2	c.7183+287G>A	-	IntronicSNV	-	47/48
12-124811668-C-A	NCOR2	c.7183+287G>T	-	IntronicSNV	-	47/48
12-124853051-T-C	NCOR2	c.2807+3517A>G	-	IntronicSNV	-	22/48
17-15968887-T-C	NCOR1	c.4863A>G	p.Gln1621Gln	Synonymous	33/46	-
17-15977214-T-C	NCOR1	c.3671-331A>G	-	IntronicSNV	-	27/45
9-107626542-C-T	ABCA1	c.422-2461G>A	-	IntronicSNV	-	5/49
2-215820013-G-A	ABCA12	c.6306C>T	p.Tyr2102Tyr	Synonymous	43/53	-
2-215820013-G-T	ABCA12	c.6306C>A	p.Tyr2102*	Nonsense	43/53	-
9-107573498-G-A	ABCA1	c.4051-293C>T	-	IntronicSNV	-	28/49
12-125315989-T-G	SCARB1	c.127-13736A>C	-	IntronicSNV	-	1/12
12-125315989-T-A	SCARB1	c.127-13736A>T	-	IntronicSNV	-	1/12
12-124833816-C-T	NCOR2	c.3845-956G>A	-	IntronicSNV	-	30/48
12-125034350-G-T	NCOR2	c.-164-14193C>A	-	intron_variant	-	1/48
9-107685568-T-C	ABCA1	c.-93+4648A>G	-	intron_variant	-	1/49
17-15963063-C-T	NCOR1	c.5882-1150G>A	-	IntronicSNV	-	37/45
17-15963063-C-A	NCOR1	c.5882-1150G>T	-	IntronicSNV	-	37/45
2-215893773-T-C	ABCA12	c.1062-2111A>G	-	IntronicSNV	-	9/52
9-107664373-C-T	ABCA1	c.66+1522G>A	-	IntronicSNV	-	2/49
16-57003846-C-T	CETP	c.460C>T	p.Arg154Trp	Missense	5/16	-
9-15226723-T-G	TTC39B	c.276-713A>C	-	IntronicSNV	-	2/19
16-57003846-C-G	CETP	c.460C>G	p.Arg154Gly	Missense	5/16	-
17-15966015-A-G	NCOR1	c.5222-431T>C	-	IntronicSNV	-	35/45
17-17739348-C-T	SREBF1	c.91+693G>A	-	IntronicSNV	-	1/18
6-46605174-G-A	CYP39A1	c.578+392C>T	-	IntronicSNV	-	4/11
16-57009165-A-G	CETP	c.981+102A>G	-	IntronicSNV	-	10/15
1-55505651-C-T	PCSK9	c.141C>T	p.Ser47Ser	Synonymous	1/12	-
2-215901252-G-A	ABCA12	c.985+425C>T	-	IntronicSNV	-	8/52
12-124859887-C-T	NCOR2	c.2168-878G>A	-	IntronicSNV	-	20/48
21-43699096-G-A	ABCG1	c.621+2041G>A	-	IntronicSNV	-	5/14
21-43699701-C-T	ABCG1	c.621+2646C>T	-	IntronicSNV	-	5/14
17-16077875-G-A	NCOR1	c.243-2566C>T	-	IntronicSNV	-	3/45
9-137267991-C-T	RXRA	c.29-25487C>T	-	IntronicSNV	-	1/9
19-11213462-C-T	LDLR	c.313C>T	p.Pro105Ser	Missense	3/18	-
12-124984341-A-C	NCOR2	c.1-4544T>G	-	IntronicSNV	-	2/48
9-107634691-A-G	ABCA1	c.422-10610T>C	-	IntronicSNV	-	5/49
17-16052005-C-A	NCOR1	c.909+760G>T	-	IntronicSNV	-	9/45
12-124984341-A-T	NCOR2	c.1-4544T>A	-	IntronicSNV	-	2/48
12-124984341-A-G	NCOR2	c.1-4544T>C	-	IntronicSNV	-	2/48
19-11206585-G-A	LDLR	c.68-4314G>A	-	IntronicSNV	-	1/17
9-107604507-C-T	ABCA1	c.814-1707G>A	-	IntronicSNV	-	8/49
12-125317230-G-A	SCARB1	c.127-14977C>T	-	IntronicSNV	-	1/12
11-47283609-C-T	NR1H3	c.808+40C>T	-	IntronicSNV	-	6/8
1-55524197-A-G	PCSK9	c.1380A>G	p.Val460Val	Synonymous	9/12	-
9-107647973-C-T	ABCA1	c.161-1124G>A	-	IntronicSNV	-	3/49
11-47298360-G-A	MADD	c.1041G>A	p.Glu347Glu	Synonymous	5/33	-
1-55524197-A-C	PCSK9	c.1380A>C	p.Val460Val	Synonymous	9/12	-
12-124867996-G-C	NCOR2	c.2019+2295C>G	-	IntronicSNV	-	19/48
9-107550222-G-A	ABCA1	c.6183C>T	p.Gly2061Gly	Synonymous	46/50	-
21-43695882-C-T	ABCG1	c.571-1123C>T	-	IntronicSNV	-	4/14
9-15293620-C-T	TTC39B	c.240+13462G>A	-	IntronicSNV	-	1/19
12-124936219-G-A	NCOR2	c.763-1806C>T	-	IntronicSNV	-	8/48
19-11242496-G-A	LDLR	c.*504G>A	-	3-UTRSNV	18/18	-
9-107665751-C-T	ABCA1	c.66+144G>A	-	IntronicSNV	-	2/49
9-107686354-A-G	ABCA1	c.-93+3862T>C	-	intron_variant	-	1/49
4-174189360-A-C	GALNT7	c.587+19769A>C	-	IntronicSNV	-	2/11
12-125304004-C-T	SCARB1	c.127-1751G>A	-	IntronicSNV	-	1/12
19-11205550-C-T	LDLR	c.67+5259C>T	-	IntronicSNV	-	1/17
9-107596411-C-T	ABCA1	c.1312-1359G>A	-	IntronicSNV	-	11/49
9-107596411-C-G	ABCA1	c.1312-1359G>C	-	IntronicSNV	-	11/49
9-107671659-T-C	ABCA1	c.1-5699A>G	-	IntronicSNV	-	1/49
19-11205550-C-G	LDLR	c.67+5259C>G	-	IntronicSNV	-	1/17
19-11205550-C-A	LDLR	c.67+5259C>A	-	IntronicSNV	-	1/17
12-125292884-A-C	SCARB1	c.843-411T>G	-	IntronicSNV	-	6/12
12-124852843-T-C	NCOR2	c.2807+3725A>G	-	IntronicSNV	-	22/48
17-15968750-T-C	NCOR1	c.4951+49A>G	-	IntronicSNV	-	33/45
9-107535492-A-G	NIPSNAP3B	c.*138A>G	-	3-UTRSNV	6/6	-
9-137249619-G-A	RXRA	c.28+31114G>A	-	IntronicSNV	-	1/9
21-43662626-C-A	ABCG1	c.319+16602C>A	-	IntronicSNV	-	2/14
2-215820921-G-A	ABCA12	c.6233+466C>T	-	IntronicSNV	-	42/52
9-107550639-A-G	ABCA1	c.6069+68T>C	-	IntronicSNV	-	45/49
12-125007666-T-C	NCOR2	c.-118+12445A>G	-	intron_variant	-	2/48
21-43687442-C-T	ABCG1	c.320-3738C>T	-	IntronicSNV	-	2/14
16-57016092-G-C	CETP	c.1264G>C	p.Val422Leu	Missense	14/16	-
2-215820921-G-C	ABCA12	c.6233+466C>G	-	IntronicSNV	-	42/52
9-15254676-C-T	TTC39B	c.275+13236G>A	-	IntronicSNV	-	2/19
21-43647317-T-C	ABCG1	c.319+1293T>C	-	IntronicSNV	-	2/14
9-15202815-C-G	TTC39B	c.759+1006G>C	-	IntronicSNV	-	7/19
9-137246262-T-C	RXRA	c.28+27757T>C	-	IntronicSNV	-	1/9
12-125282199-C-T	SCARB1	c.1129-2385G>A	-	IntronicSNV	-	8/12
9-107680443-G-A	ABCA1	c.-93+9773C>T	-	intron_variant	-	1/49
9-107578749-T-G	ABCA1	c.3536-123A>C	-	IntronicSNV	-	24/49
2-215798408-A-T	ABCA12	c.7680+394T>A	-	IntronicSNV	-	52/52
13-103697728-G-A	SLC10A2	c.*755C>T	-	3-UTRSNV	6/6	-
16-57016092-G-A	CETP	c.1264G>A	p.Val422Ile	Missense	14/16	-
9-137322488-C-T	RXRA	c.1044-1263C>T	-	IntronicSNV	-	7/9
2-215798408-A-G	ABCA12	c.7680+394T>C	-	IntronicSNV	-	52/52
12-110019233-G-A	MVK	c.405G>A	p.Ser135Ser	Synonymous	5/11	-
12-125327384-G-A	SCARB1	c.126+20757C>T	-	IntronicSNV	-	1/12
12-124884353-A-G	NCOR2	c.1813+694T>C	-	IntronicSNV	-	17/48
9-15191599-C-T	TTC39B	c.931-346G>A	-	IntronicSNV	-	9/19
16-57008508-A-T	CETP	c.931-505A>T	-	IntronicSNV	-	9/15
16-57008508-A-C	CETP	c.931-505A>C	-	IntronicSNV	-	9/15
9-15176269-C-T	TTC39B	c.1842-1136G>A	-	IntronicSNV	-	18/19
9-107580842-T-C	ABCA1	c.3462+102A>G	-	IntronicSNV	-	23/49
12-125307888-G-T	SCARB1	c.127-5635C>A	-	IntronicSNV	-	1/12
9-15270875-T-C	TTC39B	c.241-2929A>G	-	IntronicSNV	-	1/19
9-15201926-A-G	TTC39B	c.759+1895T>C	-	IntronicSNV	-	7/19
12-124976612-C-T	NCOR2	c.105+3081G>A	-	IntronicSNV	-	3/48
9-137265191-G-T	RXRA	c.29-28287G>T	-	IntronicSNV	-	1/9
12-124971823-C-T	NCOR2	c.106-709G>A	-	IntronicSNV	-	3/48
21-43647748-G-A	ABCG1	c.319+1724G>A	-	IntronicSNV	-	2/14
12-124867676-G-A	NCOR2	c.2019+2615C>T	-	IntronicSNV	-	19/48
21-43642438-C-T	ABCG1	c.75+2282C>T	-	IntronicSNV	-	1/14
9-107677211-G-C	ABCA1	c.1-11251C>G	-	IntronicSNV	-	1/49
12-125300472-G-T	SCARB1	c.285-812C>A	-	IntronicSNV	-	2/12
9-107629104-T-C	ABCA1	c.422-5023A>G	-	IntronicSNV	-	5/49