PMID: 24135527

Genetic susceptibility for ischemic infarction and arteriolosclerosis based on neuropathologic evaluations.

Cerebrovascular diseases (Basel, Switzerland)
SY Chou, JM Shulman, BT Keenan, EA Secor, AS Buchman, J Schneider, DA Bennett, PL De Jager
2013

62 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-12927544-C-G PHACTR1 c.251-126053C>G - IntronicSNV - 4/14
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
15-79089111-A-G ADAMTS7 c.640T>C p.Ser214Pro Missense 4/24 -
6-20688121-T-G CDKAL1 c.371+38513T>G - IntronicSNV - 5/15
17-73871467-G-A TRIM47 c.1276+14C>T - IntronicSNV - 5/5
6-20657564-A-G CDKAL1 c.371+7956A>G - IntronicSNV - 5/15
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
16-73029160-T-C ZFHX3 c.1-35116A>G - IntronicSNV - 1/9
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
2-203745885-T-C WDR12 c.1195-225A>G - IntronicSNV - 12/12
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
16-73051620-C-G ZFHX3 c.-50+30031G>C - intron_variant - 1/9
7-28196222-A-G JAZF1 c.115+23860T>C - IntronicSNV - 1/4
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
6-20688121-T-A CDKAL1 c.371+38513T>A - IntronicSNV - 5/15
17-73888672-T-G TRIM65 c.511-91A>C - IntronicSNV - 2/5
17-73888672-T-C TRIM65 c.511-91A>G - IntronicSNV - 2/5
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
11-117531731-C-T DSCAML1 c.511+115775G>A - intron_variant - 3/32
14-100133942-T-A HHIPL1 c.1649-617T>A - IntronicSNV - 6/8
16-73051620-C-T ZFHX3 c.-50+30031G>A - intron_variant - 1/9
7-72856430-T-C BAZ1B c.*96A>G - IntronicSNV - 19/19
17-2126504-G-C SMG6 c.145+13282C>G - IntronicSNV - 3/11
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
3-138119952-T-C MRAS c.527+497T>C - IntronicSNV - 5/5
6-35034800-G-C ANKS1A c.2184+6770G>C - IntronicSNV - 13/23
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
17-73872948-A-G TRIM47 c.676-54T>C - IntronicSNV - 1/5
6-20703952-A-G CDKAL1 c.372-35798A>G - IntronicSNV - 5/15
6-160960359-T-C LPA c.5735+716A>G - IntronicSNV - 36/38
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
17-73847613-A-G WBP2 c.168+36T>C - IntronicSNV - 2/7
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
1-56962821-A-G PLPP3 c.811-473T>C - IntronicSNV - 5/5
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
7-81362587-A-G HGF c.866-3492T>C - IntronicSNV - 7/17
9-15296034-C-A TTC39B c.240+11048G>T - IntronicSNV - 1/19
7-81362587-A-T HGF c.866-3492T>A - IntronicSNV - 7/17
14-100133942-T-C HHIPL1 c.1649-617T>C - IntronicSNV - 6/8
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
13-110960712-A-G COL4A2 c.99+242A>G - IntronicSNV - 3/47
16-56919348-C-G SLC12A3 c.1925+72C>G - IntronicSNV - 15/25
16-56919348-C-A SLC12A3 c.1925+72C>A - IntronicSNV - 15/25
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
1-154814353-C-T KCNN3 c.934-19693G>A - IntronicSNV - 1/7
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
12-90008959-A-G ATP2B1 c.2067+1620T>C - IntronicSNV - 12/20
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
17-46988597-C-T UBE2Z c.390+355C>T - IntronicSNV - 2/6
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
16-73029160-T-A ZFHX3 c.1-35116A>T - IntronicSNV - 1/9
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -