rs1555296472, ATP7B

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 GeneticVariation CLINVAR New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. 18373411 2008