SLC46A1, solute carrier family 46 member 1, 113235

N. diseases: 97; N. variants: 20
Disease: Hemifacial microsomia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338774
rs80338774
Entrez Id: 23098;113235
Gene Symbol: SARM1;SLC46A1
SARM1;SLC46A1
CUI: C3495417
Disease:
Hemifacial microsomia 		0.010 GeneticVariation BEFREE This study defines the basis for the functional changes due to a P425R mutation detected in a subject with HFM. 22345511 2012