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