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