Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913223
rs121913223
DHFR
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 GeneticVariation BEFREE In conclusion, the homozygous DHFR mutation p.Asp153Val causes DHFR deficiency and leads to a complex hematological and neurological disease that can be successfully treated with folinic acid. 21310277

2011