Annotation Detail

Information
Associated Genes
MTHFD1
Associated Variants
MTHFD1 p.Lys134Arg (p.K134R) ( ENST00000557539.2, ENST00000554768.6, ENST00000697174.1, ENST00000545908.6, ENST00000697173.1, ENST00000697168.1, ENST00000652337.1, ENST00000557370.3 )
MTHFD1 p.Arg653Gln (p.R653Q) ( ENST00000557539.2, ENST00000697174.1, ENST00000554768.6, ENST00000697173.1, ENST00000545908.6, ENST00000557370.3, ENST00000652337.1, ENST00000697168.1 )
MTHFD1 p.Lys134Arg (p.K134R) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 )
MTHFD1 p.Arg653Gln (p.R653Q) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 )
Associated Disease
Common Migraine
Source Database
DisGeNET
Description
The R134K and R653Q variants in MTHFD1 were genotyped in an Australian cohort of 520 unrelated migraineurs (162 were diagnosed with migraine without aura [MO] and 358 with MA) and 520 matched controls.
Pubmed
25039261
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs