Annotation Detail

Information
Associated Genes
CD59
Associated Variants
MTHFS c.380-17198G>A, ST20-MTHFS c.308-17198G>A ( ENST00000479961.1, ENST00000258874.4, ENST00000615374.5, ENST00000559722.2 )
MTHFS c.380-17198G>A, ST20-MTHFS c.308-17198G>A ( ENST00000258874.4, ENST00000559722.2, ENST00000479961.1, ENST00000615374.5 )
Associated Disease
Kidney Diseases
Source Database
DisGeNET
Description
Borderline significant associations of rs6495446 were observed with CKD at study visit 1 (p = 0.024), eGFR at study visits 1 (p = 0.073) and 4 (lower mean eGFR per C allele by 0.6 ml/min/1.73 m2, p = 0.043) and kidney disease progression (hazard ratio 1.13 per each C allele, 95% CI 1.00-1.26, p = 0.041).
Pubmed
18522750
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00271441872080303
Year of publication
2008
Drugs