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.
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.870 1.000 8 2009 2018
Amyotrophic Lateral Sclerosis, Sporadic
90 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.710 1.000 2 2014 2015
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2014 2014
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
54 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2014 2014
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
67 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2014 2014
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
67 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2012 2012
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.020 1.000 2 2012 2018
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2015 2015
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
52 0.776 0.200 9 27543283 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2018 2018