Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853055
rs137853055
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.710 GeneticVariation BEFREE In the present study, we identified two types of point mutations (Thr240Arg and Gln311Stop) involving exons 6 and 8 in the parkin gene of the AR-JP patients from two Turkish families. 9731209

1998
dbSNP: rs137853055
rs137853055
PRKN
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		A 0.710 CausalMutation CLINVAR