Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1468358104
rs1468358104
FLVCR1 ; FLVCR1-DT
0.010 GeneticVariation BEFREE We overexpressed the c.2T>C; p.(Met1Thr) mutant in human cell lines and we describe its impact on protein structure and function in comparison with other HSAN-related mutations. 31408049

2019