PMID: 17672902

Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

BMC medical genetics

Kaushal, Ritesh R, Woo, Daniel D, Pal, Prodipto P, Haverbusch, Mary M, Xi, Huifeng H, Moomaw, Charles C, Sekar, Padmini P, Kissela, Brett B, Kleindorfer, Dawn D, Flaherty, Matthew M, Sauerbeck, Laura L, Chakraborty, Ranajit R, Broderick, Joseph J, Deka, Ranjan R

2007-07-31

19 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
19-45403924-C-T	TOMM40	c.644-63C>T	-	IntronicSNV	-	5/8
7-73456160-C-A	ELN	c.232+579C>A	-	IntronicSNV	-	5/32
7-73452263-G-A	ELN	c.196+194G>A	-	IntronicSNV	-	4/32
7-73454409-T-C	ELN	c.197-1137T>C	-	IntronicSNV	-	4/32
7-73454409-T-G	ELN	c.197-1137T>G	-	IntronicSNV	-	4/32
19-45406673-G-A	TOMM40	c.*247G>A	-	3-UTRSNV	9/9	-
19-45412040-C-T	APOE	c.487C>T	p.R163C	Missense	4/4	-
7-73452140-G-A	ELN	c.196+71G>A	-	IntronicSNV	-	4/32
19-45395714-T-C	TOMM40	c.339T>C	p.F113=	Synonymous	2/9	-
19-45409167-C-G	APOE	c.-24+69C>G	-	intron_variant	-	1/3
19-45409167-C-T	APOE	c.-24+69C>T	-	intron_variant	-	1/3
7-73470714-G-A	ELN	c.1264G>A	p.G422S	Missense	20/33	-
7-73470714-G-C	ELN	c.1264G>C	p.G422R	Missense	20/33	-
19-45411110-T-C	APOE	c.137T>C	p.L46P	Missense	3/4	-
19-45403412-C-T	TOMM40	c.644-575C>T	-	IntronicSNV	-	5/8
19-45397229-G-A	TOMM40	c.549G>A	p.S183=	Synonymous	5/9	-
7-73481028-C-T	ELN	c.2087-34C>T	-	IntronicSNV	-	31/32
7-73469169-C-T	ELN	c.1150+70C>T	-	IntronicSNV	-	19/32
7-73445114-T-C	ELN	c.82+2515T>C	-	IntronicSNV	-	1/32