Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853046
rs137853046
TUBA1A
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
dbSNP: rs137853046
rs137853046
TUBA1A
0.800 GeneticVariation UNIPROT Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). 17584854

2007
dbSNP: rs137853046
rs137853046
TUBA1A
T 0.800 CausalMutation CLINVAR