Annotation Detail
Information
- Associated Genes
- SERPINE1
- Associated Variants
-
rs12147254
(
ENST00000539721.5,
ENST00000392745.8,
ENST00000351691.10,
ENST00000560371.5 )
CCR7 c.10+1853G>A ( ENST00000246657.2 )
GYS1 c.*725C>T ( ENST00000263276.6, ENST00000323798.8 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
DNAJC16 c.575-2202A>G ( ENST00000375847.8, ENST00000375838.5, ENST00000375849.5, ENST00000616884.4 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000614058.4, ENST00000366837.5, ENST00000272167.10 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000681177.1, ENST00000681102.1, ENST00000679842.1, ENST00000674797.2 )
NC_000002.12:g.112837290A>G
TNF c.-488G>A
SERPINE1 c.506-407A>G ( ENST00000223095.5 )
rs17501108
rs12147254 ( ENST00000351691.10, ENST00000392745.8, ENST00000539721.5, ENST00000560371.5 )
CCR7 c.10+1853G>A ( ENST00000246657.2 )
GYS1 c.*725C>T ( ENST00000263276.6, ENST00000323798.8 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
DNAJC16 c.575-2202A>G ( ENST00000375838.5, ENST00000375847.8, ENST00000375849.5, ENST00000616884.4 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
NC_000002.12:g.112837290A>G
TNF c.-488G>A
SERPINE1 c.506-407A>G ( ENST00000223095.5 )
rs17501108 - Associated Disease
- 5,10-Methylenetetrahydrofolate reductase deficiency
- Source Database
- DisGeNET
- Description
- With the aim to conclusively validate the strongest associations so far reported, we selected the polymorphisms rs2227667 (SERPINE1), rs17501108 (HGF), rs3136685 (CCR7), rs16944 (IL1B), rs12147254 (TRAF3), rs1805087 (MTR), rs1800629 (TNF-α), rs7516435 (CASP9), rs1042265 (BAX), rs2234922 (mEH), and rs1801133 (MTHFR).
- Pubmed
- 24521996
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2015
Drugs