Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315407
rs74315407
PRNP
0.020 GeneticVariation BEFREE This report suggests to consider the diagnosis of V210I genetic CJD in patients presenting with the Heidenhain form of CJD and highlights the importance of genetic testing in all patients with isolated visual manifestations at onset followed by progressive neurological signs and dementia. 26268049

2016
dbSNP: rs74315407
rs74315407
PRNP
0.020 GeneticVariation BEFREE MRI provides useful information in E200K and V210I gCJD patients. 22407223

2013