SYP, synaptophysin, 6855

N. diseases: 243; N. variants: 3
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199590018
rs199590018
Entrez Id: 6855
Gene Symbol: SYP
SYP
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Screening of known human synaptophysin mutations revealed a similar presynaptic phenotype between T198I and a mutation found in X-linked intellectual disability. 28887151 2017