rs758014228, 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 17004690 splice donor variant A/C snv 5.6E-05 9.1E-05 0.700 1.000 2 2006 2012
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
7 0.925 0.040 1 17004690 splice donor variant A/C snv 5.6E-05 9.1E-05 0.700 1.000 2 2006 2012