rs200133991, C19orf12

N. diseases: 3
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.
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.925 0.080 19 29708290 missense variant C/T snv 1.2E-05 2.1E-05 0.700 1.000 1 2017 2017
Nerve Degeneration
CUI: C0027746
Disease: Nerve Degeneration
17 0.925 0.080 19 29708290 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
CUI: C3280371
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
18 0.925 0.080 19 29708290 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0