Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768633670
rs768633670
Entrez Id: 7267;51227
Gene Symbol: TTC3;PIGP
TTC3;PIGP
CUI: C4539843
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 		0.800 GeneticVariation UNIPROT Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. 28334793 2017
dbSNP: rs768633670
rs768633670
Entrez Id: 7267;51227
Gene Symbol: TTC3;PIGP
TTC3;PIGP
CUI: C4539843
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 		G 0.800 CausalMutation CLINVAR
dbSNP: rs768633670
rs768633670
Entrez Id: 7267;51227
Gene Symbol: TTC3;PIGP
TTC3;PIGP
CUI: C4539843
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs778481061
rs778481061
Entrez Id: 51227;105372795
Gene Symbol: PIGP;LOC105372795
PIGP;LOC105372795
CUI: C4539843
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 		C 0.700 CausalMutation CLINVAR