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.
Infantile Neuroaxonal Dystrophy
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
25 0.882 0.080 22 38112212 stop gained A/C snv 8.2E-05 6.3E-05 0.700 1.000 7 2006 2016
Iron accumulation in brain
CUI: C4021076
Disease: Iron accumulation in brain
38 0.882 0.080 22 38112212 stop gained A/C snv 8.2E-05 6.3E-05 0.700 0
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
15 0.882 0.080 22 38112212 stop gained A/C snv 8.2E-05 6.3E-05 0.700 0
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
7 0.882 0.080 22 38112212 stop gained A/C snv 8.2E-05 6.3E-05 0.700 0