Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Ala263Val (p.A263V)
(
ENST00000376585.6,
ENST00000376583.7,
ENST00000376590.9,
ENST00000376592.6,
ENST00000423400.7,
ENST00000641407.1,
ENST00000641820.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- Cleft lip with or without cleft palate
- Source Database
- DisGeNET
- Description
- rs1801133C>T polymorphism in MTHFR is a risk factor for nonsyndromic cleft lip with or without cleft palate in the Brazilian population.
- Pubmed
- 25808365
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2016
Drugs