rs119467003, TDP1

N. diseases: 4
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.
Ataxia, Spinocerebellar
CUI: C0087012
Disease: Ataxia, Spinocerebellar
4 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.040 1.000 4 2005 2010
Axonal neuropathy
CUI: C0270921
Disease: Axonal neuropathy
13 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.040 1.000 4 2005 2010
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
CUI: C1846574
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
1 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.030 1.000 3 2002 2007
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.882 0.080 14 89993420 missense variant A/G snv 2.1E-05 0.010 1.000 1 2007 2007