rs773246271, 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 16992345 stop gained G/A snv 4.1E-06 2.8E-05 0.700 0
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
7 0.925 0.040 1 16992345 stop gained G/A snv 4.1E-06 2.8E-05 0.700 0