PRKCB, protein kinase C beta, 5579

N. diseases: 317; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1460808228
rs1460808228
Entrez Id: 5579
Gene Symbol: PRKCB
PRKCB
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. 25313507 2014