Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200406921
rs200406921
SLC5A1
0.710 GeneticVariation BEFREE We suggest that the compound heterozygote missense mutations G318R and A468V lead to GGM in this patient by defective trafficking of mutant proteins from the endoplasmic reticulum to the plasma membrane. 10036327

1999
dbSNP: rs200406921
rs200406921
SLC5A1
0.710 GeneticVariation UNIPROT