Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1768208
rs1768208
0.878 0.179 3 39481512 intron variant T/C snp 0.76
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.820 1.000 3 2011 2016
dbSNP: rs538867
rs538867
1.000 0.071 3 39471787 intron variant C/T snp 9.6E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Mental Disorders; Nervous System Diseases 0.800 1 2014 2014
dbSNP: rs864643
rs864643
1.000 0.036 3 39514089 3 prime UTR variant A/G snp 0.32
Attention deficit hyperactivity disorder
Mental Disorders 0.800 1 2009 2009
dbSNP: rs1707957
rs1707957
1.000 0.036 3 39482000 intron variant C/A snp 0.27
CUI: C0004509
Disease: Azoospermia
Azoospermia
Male Urogenital Diseases 0.700 1 2012 2012
dbSNP: rs616147
rs616147
0.821 0.071 3 39492990 intron variant A/G snp 0.76
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
0.700 1 2018 2018
dbSNP: rs616147
rs616147
0.821 0.071 3 39492990 intron variant A/G snp 0.76
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 1 2016 2016
dbSNP: rs616147
rs616147
0.821 0.071 3 39492990 intron variant A/G snp 0.76
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
0.700 1 2018 2018
dbSNP: rs616147
rs616147
0.821 0.071 3 39492990 intron variant A/G snp 0.76
Amyotrophic Lateral Sclerosis, Sporadic
Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 1 2018 2018
dbSNP: rs616147
rs616147
0.821 0.071 3 39492990 intron variant A/G snp 0.76
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 1 2018 2018
dbSNP: rs1768208
rs1768208
0.878 0.179 3 39481512 intron variant T/C snp 0.76
Behavioral variant of frontotemporal dementia
0.010 1.000 1 2014 2014
dbSNP: rs1768208
rs1768208
0.878 0.179 3 39481512 intron variant T/C snp 0.76
COLORBLINDNESS, PARTIAL, DEUTAN SERIES
0.010 1.000 1 2016 2016
dbSNP: rs1768208
rs1768208
0.878 0.179 3 39481512 intron variant T/C snp 0.76
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1768244
rs1768244
1.000 0.036 3 39500688 intron variant C/A snp 0.35
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
Digestive System Diseases 0.010 1.000 1 2011 2011