Annotation Detail
Information
- Associated Genes
- ESR1
- Associated Variants
-
BRSK1 c.318-519T>C
(
ENST00000309383.6,
ENST00000585418.1,
ENST00000590333.5 )
HK3 c.1600+18G>A ( ENST00000292432.10 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
rs3108910
rs3847153
BRSK1 c.318-519T>C ( ENST00000309383.6, ENST00000585418.1, ENST00000590333.5 )
HK3 c.1600+18G>A ( ENST00000292432.10 )
ESR1 c.453-397T>C ( ENST00000206249.8, ENST00000338799.9, ENST00000406599.5, ENST00000427531.6, ENST00000440973.5, ENST00000443427.5, ENST00000456483.3 )
rs3108910
rs3847153 - Associated Disease
- premature menopause
- Source Database
- DisGeNET
- Description
- To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs3108910; and one SNP each in HK3 (rs2278493), ESR1 (rs2234693) and BRSK1 (rs12611091) - are associated with premature ovarian failure (POF) in a different ethnic group (Serbian).
- Pubmed
- 24103315
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2013
Drugs