rs121918227, ATP13A2

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
KUFOR-RAKEB SYNDROME
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
16 0.925 0.040 1 16996008 missense variant C/G snv 0.800 1.000 11 2006 2017
Parkinsonism, Juvenile
CUI: C0752105
Disease: Parkinsonism, Juvenile
2 0.925 0.040 1 16996008 missense variant C/G snv 0.010 1.000 1 2007 2007