PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs191333060
rs191333060
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
CUI: C0376532
Disease:
Epilepsy, Rolandic
C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018