rs146170087, C19orf12

N. diseases: 7
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.
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.710 1.000 1 2018 2018
Adult-onset night blindness
CUI: C4024790
Disease: Adult-onset night blindness
3 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.700 0
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.700 0
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
18 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.700 0
Peripheral visual field loss
CUI: C0241688
Disease: Peripheral visual field loss
4 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.700 0
Tremor
CUI: C0040822
Disease: Tremor
52 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.700 0
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.010 1.000 1 2018 2018