Annotation Detail

Information
Associated Genes
HSD17B1
Associated Variants
HSD17B1 p.Gly314Ser (p.G314S) ( ENST00000225929.5, ENST00000585807.6 )
HSD17B1 p.Gly314Arg (p.G314R) ( ENST00000225929.5, ENST00000585807.6 )
HSD17B1 p.Gly314Ser (p.G314S) ( ENST00000225929.5, ENST00000585807.6 )
HSD17B1 p.Gly314Arg (p.G314R) ( ENST00000225929.5, ENST00000585807.6 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
The association between HSD17B1 Ser312Gly polymorphism and breast cancer risk: a meta-analysis including 31,053 subjects.
Pubmed
20151320
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00407162808120455
Year of publication
2010
Drugs