Annotation Detail
Information
- Associated Genes
- HABP2
- Associated Variants
-
HABP2 c.69+4703A>G
(
ENST00000351270.4,
ENST00000542051.5 )
HABP2 c.70-1803C>A ( ENST00000542051.5, ENST00000351270.4 )
F7 p.Arg413Gln (p.R413Q) ( ENST00000541084.5, ENST00000346342.8, ENST00000375581.3 )
F7 p.Arg413Pro (p.R413P) ( ENST00000375581.3, ENST00000541084.5, ENST00000346342.8 )
F7 p.Arg413Leu (p.R413L) ( ENST00000541084.5, ENST00000346342.8, ENST00000375581.3 )
rs3093261
rs3138055
NFKB1 c.258+1994A>G ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 )
HABP2 c.69+4703A>G ( ENST00000351270.4, ENST00000542051.5 )
HABP2 c.70-1803C>A ( ENST00000351270.4, ENST00000542051.5 )
F7 p.Arg413Gln (p.R413Q) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 )
F7 p.Arg413Pro (p.R413P) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 )
F7 p.Arg413Leu (p.R413L) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 )
rs3093261
rs3138055
NFKB1 c.258+1994A>G ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 ) - Associated Disease
- Cerebrovascular accident
- Source Database
- DisGeNET
- Description
- Among whites, six SNPs were associated with stroke, with a nominal P-value of < 0.01: rs6046 and rs3093261 (F7); rs4918851 and rs3781387 (HABP2); and rs3138055 (NFKB1A) and rs4648004 (NFKB1).
- Pubmed
- 21114618
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2011
Drugs