rs397514477, C19orf12

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 4
CUI: C3280371
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
18 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.810 1.000 16 2011 2017
Abnormality of iron homeostasis
CUI: C4023583
Disease: Abnormality of iron homeostasis
1 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018