Annotation Detail
Information
- Associated Genes
- ESR2
- Associated Variants
-
ESR2 SNV
(
ENST00000358599.9,
ENST00000554572.5 )
rs3020450 ( ENST00000554572.5, ENST00000358599.9 )
rs2813544 ( ENST00000427531.6 )
ESR2 SNV ( ENST00000358599.9, ENST00000554572.5 )
rs3020450 ( ENST00000358599.9, ENST00000554572.5 )
rs2813544 ( ENST00000427531.6 ) - Associated Disease
- lipodystrophy
- Source Database
- DisGeNET
- Description
- Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropometric variables, and the ESR2 gene (rs3020450) was associated with an increased risk of developing lipoatrophy.
- Pubmed
- 22011627
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs