Annotation Detail
Information
- Associated Genes
- BRSK1
- Associated Variants
-
rs7333181
BRSK1 c.2090-162C>T ( ENST00000309383.6, ENST00000326848.7, ENST00000590333.5 )
ENSG00000286235 c.336+49T>C, MCM8 c.336+49T>C ( ENST00000265187.4, ENST00000378883.5, ENST00000378886.6, ENST00000378896.7, ENST00000610722.4 )
PCSK1 c.1197-1534T>A ( ENST00000311106.8, ENST00000508626.5 )
IGF2R c.5834-1326C>T ( ENST00000356956.6 )
LTA c.-9-198A>G ( ENST00000454783.5, ENST00000418386.3 )
rs7333181
BRSK1 c.2090-162C>T ( ENST00000309383.6, ENST00000326848.7, ENST00000590333.5 )
ENSG00000286235 c.336+49T>C, MCM8 c.336+49T>C ( ENST00000265187.4, ENST00000378883.5, ENST00000378886.6, ENST00000378896.7, ENST00000610722.4 )
PCSK1 c.1197-1534T>A ( ENST00000311106.8, ENST00000508626.5 )
IGF2R c.5834-1326C>T ( ENST00000356956.6 )
LTA c.-9-198A>G ( ENST00000418386.3, ENST00000454783.5 ) - Associated Disease
- Malignant Childhood Neoplasm
- Source Database
- DisGeNET
- Description
- We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer (n = 176) and studied single nucleotide polymorphisms (SNPs) previously reported to be associated with age at natural menopause: BRSK1 (rs1172822), ARHGEF7 (rs7333181), MCM8 (rs236114), PCSK1 (rs271924), IGF2R (rs9457827) and TNF (rs909253).
- Pubmed
- 23360674
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs