Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338770
rs80338770
Entrez Id: 113235
Gene Symbol: SLC46A1
SLC46A1
CUI: C3495417
Disease:
Hemifacial microsomia
0.010 GeneticVariation BEFREE Hereditary folate malabsorption (HFM) patients harbor inactivating mutations including R113S in the proton-coupled folate transporter (PCFT), an intestinal folate transporter with optimal activity at acidic pH. 18559978 2008