Annotation Detail
Information
- Associated Genes
- GHRL
- Associated Variants
-
GHRL p.Gln90Leu (p.Q90L)
(
ENST00000287656.11,
ENST00000335542.13,
ENST00000422159.5,
ENST00000429122.1,
ENST00000430179.5,
ENST00000437422.6,
ENST00000439975.6,
ENST00000446937.2,
ENST00000449238.6,
ENST00000457360.5 )
GHRL c.226-313A>G ( ENST00000287656.11, ENST00000335542.13, ENST00000422159.5, ENST00000429122.1, ENST00000430179.5, ENST00000437422.6, ENST00000439975.6, ENST00000446937.2, ENST00000449238.6, ENST00000457360.5 )
GHRL p.Leu72Met (p.L72M) ( ENST00000287656.11, ENST00000335542.13, ENST00000422159.5, ENST00000429122.1, ENST00000430179.5, ENST00000437422.6, ENST00000439975.6, ENST00000446937.2, ENST00000449238.6, ENST00000457360.5 )
GHSR p.Arg159= (p.R159=) ( ENST00000241256.3, ENST00000427970.1 )
GHRL p.Gln90Leu (p.Q90L) ( ENST00000287656.11, ENST00000335542.13, ENST00000422159.5, ENST00000429122.1, ENST00000430179.5, ENST00000437422.6, ENST00000439975.6, ENST00000446937.2, ENST00000449238.6, ENST00000457360.5 )
GHRL c.226-313A>G ( ENST00000287656.11, ENST00000335542.13, ENST00000422159.5, ENST00000429122.1, ENST00000430179.5, ENST00000437422.6, ENST00000439975.6, ENST00000446937.2, ENST00000449238.6, ENST00000457360.5 )
GHRL p.Leu72Met (p.L72M) ( ENST00000287656.11, ENST00000335542.13, ENST00000422159.5, ENST00000429122.1, ENST00000430179.5, ENST00000437422.6, ENST00000439975.6, ENST00000446937.2, ENST00000449238.6, ENST00000457360.5 )
GHSR p.Arg159= (p.R159=) ( ENST00000241256.3, ENST00000427970.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect carriers against breast cancer, and the rs4684677 GHRL and rs572169 GHSR polymorphisms may increase the risk among carriers.
- Pubmed
- 25376984
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs