rs515726205, 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.
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
CUI: C3280371
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
18 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.800 1.000 5 2011 2015
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
CUI: C2680446
Disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
3 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 1.000 4 2011 2013
Adult-onset night blindness
CUI: C4024790
Disease: Adult-onset night blindness
3 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
Peripheral visual field loss
CUI: C0241688
Disease: Peripheral visual field loss
4 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0
Tremor
CUI: C0040822
Disease: Tremor
52 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 0.700 0