PMID: 31714636

Lipid lowering and Alzheimer disease risk: A mendelian randomization study.

Annals of neurology
DM Williams, C Finan, AF Schmidt, S Burgess, AD Hingorani
2020-01

233 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
22-30378703-C-T MTMR3 c.210+3662C>T - IntronicSNV - 5/19
2-21239595-A-T APOB c.3122-74T>A - IntronicSNV - 20/28
1-55528629-G-A PCSK9 c.1864-413G>A - IntronicSNV - 11/11
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
7-44561901-A-C NPC1L1 c.2638-60T>G - IntronicSNV - 10/19
2-21245813-G-T APOB c.2706C>A p.Asn902Lys Missense 18/29 -
5-74646878-C-T HMGCR c.942-15C>T - IntronicSNV - 9/19
5-74655498-T-G HMGCR c.2457+117T>G - IntronicSNV - 18/19
5-74634473-A-G HMGCR c.-24+1348A>G - intron_variant - 1/19
1-55509900-C-T PCSK9 c.399+193C>T - IntronicSNV - 2/11
1-55507882-C-A PCSK9 c.208-1634C>A - IntronicSNV - 1/11
1-55529871-C-T PCSK9 c.*614C>T - 3-UTRSNV 12/12 -
2-21265518-A-T APOB c.122-170T>A - IntronicSNV - 2/28
7-44573803-G-A NPC1L1 c.2166+243C>T - IntronicSNV - 6/19
1-55529871-C-G PCSK9 c.*614C>G - 3-UTRSNV 12/12 -
5-74634473-A-C HMGCR c.-24+1348A>C - intron_variant - 1/19
1-55518316-C-T PCSK9 c.658-7C>T - IntronicSNV - 4/11
7-44555081-A-G NPC1L1 c.3877+321T>C - IntronicSNV - 19/19
2-21241744-C-T APOB c.3121+120G>A - IntronicSNV - 20/28
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
5-74692776-A-T COL4A3BP c.1188+2359T>A - IntronicSNV - 11/17
6-160543148-C-T SLC22A1 c.181C>T p.Arg61Cys Missense 1/11 -
7-44558859-A-C NPC1L1 c.3137-594T>G - IntronicSNV - 14/19
1-55524971-T-C PCSK9 c.1504-188T>C - IntronicSNV - 9/11
7-44563555-C-G NPC1L1 c.2638-1714G>C - IntronicSNV - 10/19
7-44558216-C-T NPC1L1 c.3186G>A p.Ser1062Ser Synonymous 15/20 -
1-55509872-T-C PCSK9 c.399+165T>C - IntronicSNV - 2/11
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
1-55522558-G-T PCSK9 c.997-446G>T - IntronicSNV - 6/11
1-55522558-G-C PCSK9 c.997-446G>C - IntronicSNV - 6/11
5-74649649-T-C HMGCR c.1369-679T>C - IntronicSNV - 11/19
1-55525722-G-A PCSK9 c.1681+386G>A - IntronicSNV - 10/11
7-44563555-C-T NPC1L1 c.2638-1714G>A - IntronicSNV - 10/19
1-55526840-C-G PCSK9 c.1682-208C>G - IntronicSNV - 10/11
2-21263639-T-G APOB c.383+171A>C - IntronicSNV - 4/28
2-21244617-G-A APOB c.2816+1086C>T - IntronicSNV - 18/28
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
1-55513043-C-T PCSK9 c.523+724C>T - IntronicSNV - 3/11
2-21245329-G-T APOB c.2816+374C>A - IntronicSNV - 18/28
22-41170063-T-C SLC25A17 c.694-40A>G - IntronicSNV - 7/8
7-44559271-G-C NPC1L1 c.3137-1006C>G - IntronicSNV - 14/19
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
2-21237238-A-T APOB c.3842+82T>A - IntronicSNV - 24/28
5-74654779-A-T HMGCR c.2157+127A>T - IntronicSNV - 16/19
1-55522415-G-A PCSK9 c.996+553G>A - IntronicSNV - 6/11
5-74640625-G-A HMGCR c.365+468G>A - IntronicSNV - 4/19
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
2-21245367-A-G APOB c.2816+336T>C - IntronicSNV - 18/28
7-44555406-G-A NPC1L1 c.3873C>T p.Tyr1291Tyr Synonymous 19/20 -
7-44554349-C-A NPC1L1 c.3877+1053G>T - IntronicSNV - 19/19
12-72179446-C-T RAB21 c.671C>T p.Ser224Phe Missense 7/7 -
2-21228827-C-T APOB c.10913G>A p.Arg3638Gln Missense 26/29 -
7-44564912-A-G NPC1L1 c.2638-3071T>C - IntronicSNV - 10/19
1-55522558-G-A PCSK9 c.997-446G>A - IntronicSNV - 6/11
14-94844947-C-T SERPINA1 c.1096G>A p.Glu366Lys Missense 5/5 -
14-94844947-C-G SERPINA1 c.1096G>C p.Glu366Gln Missense 5/5 -
1-55520938-G-A PCSK9 c.800-728G>A - IntronicSNV - 5/11
1-55507882-C-T PCSK9 c.208-1634C>T - IntronicSNV - 1/11
1-55630151-T-C USP24 c.927+1407A>G - IntronicSNV - 7/67
1-55517301-A-G PCSK9 c.524-650A>G - IntronicSNV - 3/11
2-21239667-T-C APOB c.3122-146A>G - IntronicSNV - 20/28
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
1-55523984-C-T PCSK9 c.1354+102C>T - IntronicSNV - 8/11
7-44559271-G-A NPC1L1 c.3137-1006C>T - IntronicSNV - 14/19
11-61569830-C-T FADS1 c.*53G>A - 3-UTRSNV 12/12 -
2-21266223-T-C APOB c.121+162A>G - IntronicSNV - 2/28
2-21229446-G-C APOB c.10294C>G p.Gln3432Glu Missense 26/29 -
2-21261998-A-C APOB c.384-1015T>G - IntronicSNV - 4/28
2-21244000-G-T APOB c.2817-1223C>A - IntronicSNV - 18/28
5-74692776-A-G COL4A3BP c.1188+2359T>C - IntronicSNV - 11/17
1-55526296-A-G PCSK9 c.1682-752A>G - IntronicSNV - 10/11
7-44553238-A-G NPC1L1 c.3888T>C p.Val1296Val Synonymous 20/20 -
2-21235565-C-T APOB c.4217-42G>A - IntronicSNV - 25/28
5-74637213-T-C HMGCR c.1-1218T>C - IntronicSNV - 1/19
7-44580876-G-T NPC1L1 c.1-18C>A - 5-UTRSNV 1/20 -
7-44580876-G-A NPC1L1 c.1-18C>T - 5-UTRSNV 1/20 -
1-55526296-A-C PCSK9 c.1682-752A>C - IntronicSNV - 10/11
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
7-44565670-C-A NPC1L1 c.2638-3829G>T - IntronicSNV - 10/19
1-55517344-C-T PCSK9 c.524-607C>T - IntronicSNV - 3/11
1-55529828-C-T PCSK9 c.*571C>T - 3-UTRSNV 12/12 -
1-55516004-C-A PCSK9 c.524-1947C>A - IntronicSNV - 3/11
2-21251040-T-G APOB c.1830-103A>C - IntronicSNV - 13/28
1-55523361-A-G PCSK9 c.1180+174A>G - IntronicSNV - 7/11
8-145058986-A-G PARP10 c.1184T>C p.Leu395Pro Missense 5/11 -
5-74655451-C-T HMGCR c.2457+70C>T - IntronicSNV - 18/19
1-55517344-C-G PCSK9 c.524-607C>G - IntronicSNV - 3/11
7-44577569-G-A NPC1L1 c.1580+847C>T - IntronicSNV - 2/19
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
6-16145325-A-G MYLIP c.1025A>G p.Asn342Ser Missense 6/7 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
1-55520547-A-G PCSK9 c.800-1119A>G - IntronicSNV - 5/11
1-55519015-G-A PCSK9 c.799+551G>A - IntronicSNV - 5/11
7-44561635-C-T NPC1L1 c.2828+16G>A - IntronicSNV - 11/19
2-21233999-T-C APOB c.5741A>G p.Asn1914Ser Missense 26/29 -
2-21240364-A-G APOB c.3122-843T>C - IntronicSNV - 20/28
2-21259612-A-G APOB c.693+360T>C - IntronicSNV - 6/28
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
1-55515334-G-T PCSK9 c.524-2617G>T - IntronicSNV - 3/11
5-74656175-G-A HMGCR c.*8G>A - 3-UTRSNV 20/20 -
1-55508186-T-A PCSK9 c.208-1330T>A - IntronicSNV - 1/11
22-41170063-T-A SLC25A17 c.694-40A>T - IntronicSNV - 7/8
2-21249716-C-T APOB c.2188G>A p.Val730Ile Missense 15/29 -
17-73782191-T-C UNK c.104+1126T>C - IntronicSNV - 1/15
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
1-55518467-A-G PCSK9 c.799+3A>G - IntronicSNV - 5/11
2-21229609-C-T APOB c.10131G>A p.Leu3377Leu Synonymous 26/29 -
7-44561884-C-T NPC1L1 c.2638-43G>A - IntronicSNV - 10/19
1-150958836-A-G ANXA9 c.497A>G p.Asp166Gly Missense 8/14 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
2-21238413-C-G APOB c.3337G>C p.Asp1113His Missense 22/29 -
5-74657280-T-C HMGCR c.*1113T>C - 3-UTRSNV 20/20 -
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
1-55525944-G-A PCSK9 c.1681+608G>A - IntronicSNV - 10/11
2-21225485-C-T APOB c.12809G>A p.Arg4270Lys Missense 29/29 -
7-44579335-G-A NPC1L1 c.661C>T p.His221Tyr Missense 2/20 -
2-21241505-A-G APOB c.3121+359T>C - IntronicSNV - 20/28
4-3473139-A-G DOK7 c.101-1994A>G - IntronicSNV - 2/6
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
2-21225753-C-A APOB c.12541G>T p.Glu4181* Nonsense 29/29 -
2-21260601-G-A APOB c.537+229C>T - IntronicSNV - 5/28
2-21259562-T-C APOB c.693+410A>G - IntronicSNV - 6/28
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
7-44561600-A-G NPC1L1 c.2828+51T>C - IntronicSNV - 11/19
5-74650106-C-T HMGCR c.1369-222C>T - IntronicSNV - 11/19
5-74650106-C-G HMGCR c.1369-222C>G - IntronicSNV - 11/19
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
2-21238984-A-G APOB c.3332+327T>C - IntronicSNV - 21/28
1-55521195-C-T PCSK9 c.800-471C>T - IntronicSNV - 5/11
2-21255764-C-T APOB c.1125-311G>A - IntronicSNV - 9/28
2-21225485-C-G APOB c.12809G>C p.Arg4270Thr Missense 29/29 -
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
2-21231592-G-A APOB c.8148C>T p.Ile2716Ile Synonymous 26/29 -
22-46627603-C-T PPARA c.712-86C>T - IntronicSNV - 6/7
2-21224853-C-G APOB c.13441G>C p.Ala4481Pro Missense 29/29 -
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
1-55505447-C-T PCSK9 c.1-64C>T - 5-UTRSNV 1/12 -
5-74652199-A-G HMGCR c.1912A>G p.Ile638Val Missense 15/20 -
2-21224853-C-T APOB c.13441G>A p.Ala4481Thr Missense 29/29 -
1-55519015-G-T PCSK9 c.799+551G>T - IntronicSNV - 5/11
1-55521352-C-T PCSK9 c.800-314C>T - IntronicSNV - 5/11
2-21244358-T-G APOB c.2816+1345A>C - IntronicSNV - 18/28
7-44571628-C-T NPC1L1 c.2547+51G>A - IntronicSNV - 9/19
2-21231524-G-T APOB c.8216C>A p.Pro2739Gln Missense 26/29 -
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
1-55512995-G-A PCSK9 c.523+676G>A - IntronicSNV - 3/11
10-124610027-G-A FAM24B c.5C>T p.Pro2Leu Missense 3/4 -
7-44572346-T-C NPC1L1 c.2410-530A>G - IntronicSNV - 8/19
1-55510015-C-T PCSK9 c.399+308C>T - IntronicSNV - 2/11
1-55526685-G-A PCSK9 c.1682-363G>A - IntronicSNV - 10/11
2-21261507-T-C APOB c.384-524A>G - IntronicSNV - 4/28
2-21261507-T-A APOB c.384-524A>T - IntronicSNV - 4/28
2-21245813-G-A APOB c.2706C>T p.Asn902Asn Synonymous 18/29 -
1-55525726-T-G PCSK9 c.1681+390T>G - IntronicSNV - 10/11
1-55525726-T-A PCSK9 c.1681+390T>A - IntronicSNV - 10/11
7-44566246-C-A NPC1L1 c.2638-4405G>T - IntronicSNV - 10/19
13-32953388-T-C BRCA2 c.8755-66T>C - IntronicSNV - 21/26
1-55527323-G-A PCSK9 c.1863+94G>A - IntronicSNV - 11/11
5-74649285-C-T HMGCR c.1369-1043C>T - IntronicSNV - 11/19
9-139368953-G-T SEC16A c.3115C>A p.Arg1039Ser Missense 3/32 -
9-139368953-G-A SEC16A c.3115C>T p.Arg1039Cys Missense 3/32 -
7-44572699-C-T NPC1L1 c.2409+331G>A - IntronicSNV - 8/19
7-44555699-A-T NPC1L1 c.3698T>A p.Ile1233Asn Missense 18/20 -
1-55524197-A-C PCSK9 c.1380A>C p.Val460Val Synonymous 9/12 -
7-44570067-T-C NPC1L1 c.2637+1287A>G - IntronicSNV - 10/19
7-44553826-A-G NPC1L1 c.3878-578T>C - IntronicSNV - 19/19
1-55524197-A-G PCSK9 c.1380A>G p.Val460Val Synonymous 9/12 -
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
1-55509355-C-T PCSK9 c.208-161C>T - IntronicSNV - 1/11
7-44554349-C-G NPC1L1 c.3877+1053G>C - IntronicSNV - 19/19
7-44553496-T-C NPC1L1 c.3878-248A>G - IntronicSNV - 19/19
7-44552209-T-C NPC1L1 c.*837A>G - 3-UTRSNV 20/20 -
1-55517883-C-G PCSK9 c.524-68C>G - IntronicSNV - 3/11
7-44555199-A-C NPC1L1 c.3877+203T>G - IntronicSNV - 19/19
7-44565464-G-A NPC1L1 c.2638-3623C>T - IntronicSNV - 10/19
1-55525868-C-T PCSK9 c.1681+532C>T - IntronicSNV - 10/11
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
7-44561635-C-A NPC1L1 c.2828+16G>T - IntronicSNV - 11/19
1-55524116-C-T PCSK9 c.1355-56C>T - IntronicSNV - 8/11
2-21233972-T-C APOB c.5768A>G p.His1923Arg Missense 26/29 -
1-55524116-C-A PCSK9 c.1355-56C>A - IntronicSNV - 8/11
1-55524116-C-G PCSK9 c.1355-56C>G - IntronicSNV - 8/11
3-132163200-G-T DNAJC13 c.69-2119G>T - IntronicSNV - 2/55
2-21257927-T-C APOB c.819-154A>G - IntronicSNV - 7/28
5-74636484-C-A HMGCR c.1-1947C>A - IntronicSNV - 1/19
1-55520864-A-G PCSK9 c.800-802A>G - IntronicSNV - 5/11
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
6-32412435-G-A HLA-DRA c.*18G>A - 3_prime_UTR_variant 5/5 -
1-55513061-T-C PCSK9 c.523+742T>C - IntronicSNV - 3/11
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
5-74641560-G-A HMGCR c.450+77G>A - IntronicSNV - 5/19
1-55551718-G-C USP24 c.6669-7C>G - IntronicSNV - 55/67
1-55518166-G-C PCSK9 c.657+82G>C - IntronicSNV - 4/11
1-55513521-C-G PCSK9 c.523+1202C>G - IntronicSNV - 3/11
1-55513521-C-A PCSK9 c.523+1202C>A - IntronicSNV - 3/11
1-55529602-C-T PCSK9 c.*345C>T - 3-UTRSNV 12/12 -
1-55518166-G-T PCSK9 c.657+82G>T - IntronicSNV - 4/11
2-21239595-A-G APOB c.3122-74T>C - IntronicSNV - 20/28
2-21225753-C-T APOB c.12541G>A p.Glu4181Lys Missense 29/29 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
1-55527918-C-T PCSK9 c.1863+689C>T - IntronicSNV - 11/11
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
1-55551718-G-A USP24 c.6669-7C>T - IntronicSNV - 55/67
7-44566246-C-T NPC1L1 c.2638-4405G>A - IntronicSNV - 10/19
7-44573761-C-G NPC1L1 c.2166+285G>C - IntronicSNV - 6/19
7-44566281-C-G NPC1L1 c.2638-4440G>C - IntronicSNV - 10/19
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
7-44553492-C-T NPC1L1 c.3878-244G>A - IntronicSNV - 19/19
1-55513183-C-T PCSK9 c.523+864C>T - IntronicSNV - 3/11
1-55509213-G-C PCSK9 c.208-303G>C - IntronicSNV - 1/11
1-55509213-G-A PCSK9 c.208-303G>A - IntronicSNV - 1/11
5-74644681-G-T HMGCR c.557-1186G>T - IntronicSNV - 6/19
2-21237786-T-A APOB c.3696+159A>T - IntronicSNV - 23/28
2-21237786-T-G APOB c.3696+159A>C - IntronicSNV - 23/28
5-74652059-C-T HMGCR c.1881-109C>T - IntronicSNV - 14/19
5-74641707-G-A HMGCR c.450+224G>A - IntronicSNV - 5/19
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
7-44566917-C-T NPC1L1 c.2637+4437G>A - IntronicSNV - 10/19
7-44575664-G-T NPC1L1 c.1855-97C>A - IntronicSNV - 4/19
1-55512549-T-C PCSK9 c.523+230T>C - IntronicSNV - 3/11
1-55512549-T-A PCSK9 c.523+230T>A - IntronicSNV - 3/11
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
1-55518166-G-A PCSK9 c.657+82G>A - IntronicSNV - 4/11
17-26694861-G-A VTN c.1199C>T p.Thr400Met Missense 7/8 -
2-21226560-A-G APOB c.12088-354T>C - IntronicSNV - 28/28
3-32533010-C-T CMTM6 c.315+192G>A - IntronicSNV - 2/3
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
1-55514182-T-C PCSK9 c.523+1863T>C - IntronicSNV - 3/11