rs386834059, VPS13B

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
0.700 GeneticVariation CLINVAR Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 15141358 2004
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
0.010 GeneticVariation BEFREE Patient 1 is the first report of a severe early-onset CHS with a homozygous missense mutation (c.11362 G>A, p.G3725R) in the LYST/CHS1 gene. 24112114 2014