rs121908683, PLA2G6

N. diseases: 5
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.
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
15 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.700 1.000 1 2006 2006
Karak Syndrome
CUI: C2750220
Disease: Karak Syndrome
1 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009