Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193302878
rs193302878
SLC37A4
0.710 GeneticVariation BEFREE Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age two mutations (c.354_355insC (p. W118fsX12) and c.736T>C (p.W246R)) were detected on his SLC37A4 gene. 19579760

2009
dbSNP: rs193302878
rs193302878
SLC37A4
0.710 GeneticVariation UNIPROT