Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554902052
rs1554902052
C 0.700 GeneticVariation CLINVAR Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. 11339651

2001

dbSNP: rs1554902052
rs1554902052
C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015