Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
ESR2 c.*39G>A
(
ENST00000556275.5,
ENST00000553796.5,
ENST00000555278.5,
ENST00000353772.7,
ENST00000341099.6,
ENST00000554572.5,
ENST00000557772.5,
ENST00000267525.10,
ENST00000358599.9 )
ESR2 c.536-1031C>G ( ENST00000358599.9, ENST00000267525.10, ENST00000557772.5, ENST00000353772.7, ENST00000341099.6, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000553796.5 )
ESR2 SNV ( ENST00000358599.9, ENST00000554572.5 )
rs3020450 ( ENST00000554572.5, ENST00000358599.9 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
ESR1 p.Pro325= (p.P325=) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000456483.3, ENST00000440973.5, ENST00000443427.5 )
ESR1 c.1097-15651T>A ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
rs2813544 ( ENST00000427531.6 )
ESR2 c.*39G>A ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
ESR2 c.536-1031C>G ( ENST00000267525.10, ENST00000341099.6, ENST00000353772.7, ENST00000358599.9, ENST00000553796.5, ENST00000554572.5, ENST00000555278.5, ENST00000556275.5, ENST00000557772.5 )
ESR2 SNV ( ENST00000358599.9, ENST00000554572.5 )
rs3020450 ( ENST00000358599.9, ENST00000554572.5 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
ESR1 p.Pro325= (p.P325=) ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
ESR1 c.1097-15651T>A ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
rs2813544 ( ENST00000427531.6 ) - Associated Disease
- Metabolic syndrome X
- Source Database
- DisGeNET
- Description
- To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs2234693, rs1801132, rs7757956 and rs2813544) and ERβ (ESR2, rs3020450, rs7154455 and rs4986938) genes and relate them to the adverse effects lipodystrophy, dyslipidemia and metabolic syndrome as well as to differences in their prevalence between sexes in HIV-infected individuals on HAART.
- Pubmed
- 22011627
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00690559893384649
- Year of publication
- 2012
Drugs