Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853054
rs137853054
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.020 GeneticVariation BEFREE We found 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1). 27776828

2017
dbSNP: rs137853054
rs137853054
PRKN
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		0.020 GeneticVariation BEFREE Compound heterozygous mutations (T240M and EX 5_6 del) in the PRKN gene were found to cause autosomal recessive EOPD in 4 members of a large white family. 16476817

2006