Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34946978
rs34946978
0.710 GeneticVariation BEFREE Among Chinese children, G71R and P364L is independently associated with PUCH, A(TA)7TAA is associated with GS, and Y486D or other disease-causing mutations were associated with CNS-II. 30544479

2018

dbSNP: rs34946978
rs34946978
T 0.710 GeneticVariation CLINVAR