Annotation Detail
Information
- Associated Genes
- ADAMTS7
- Associated Variants
-
rs974819
COL4A2 c.99+242A>G ( ENST00000480609.2, ENST00000360467.7, ENST00000649951.2, ENST00000617564.3, ENST00000714396.1, ENST00000714399.1, ENST00000619688.3, ENST00000649101.1, ENST00000494852.3, ENST00000650540.1, ENST00000400163.8 )
HHIPL1 c.1649-617T>C ( ENST00000330710.10, ENST00000357223.2 )
rs4380028 ( ENST00000379535.8 )
UBE2Z c.390+355C>T ( ENST00000360943.10 )
ADTRP c.153+4257T>C ( ENST00000229583.9, ENST00000414691.8 )
TCF21 c.*241C>G ( ENST00000237316.3 )
NC_000009.12:g.22125504G>C
rs974819
COL4A2 c.99+242A>G ( ENST00000360467.7, ENST00000400163.8, ENST00000480609.2, ENST00000494852.3, ENST00000617564.3, ENST00000619688.3, ENST00000649101.1, ENST00000649951.2, ENST00000650540.1, ENST00000714396.1, ENST00000714399.1 )
HHIPL1 c.1649-617T>C ( ENST00000330710.10, ENST00000357223.2 )
rs4380028 ( ENST00000379535.8 )
UBE2Z c.390+355C>T ( ENST00000360943.10 )
ADTRP c.153+4257T>C ( ENST00000229583.9, ENST00000414691.8 )
TCF21 c.*241C>G ( ENST00000237316.3 )
NC_000009.12:g.22125504G>C - Associated Disease
- arteriosclerosis
- Source Database
- DisGeNET
- Description
- The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), ADTRP(rs6903956), PDGFD(rs974819), TCF21(rs12190287), COL4A1-A2(rs4773144), HHIPL1(rs2895811), ADAMTS7(rs4380028) and UBE2Z(rs46522), in patients with pathologically defined atherosclerosis of the coronary arteries.
- Pubmed
- 24573017
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2015
Drugs