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
0.851 0.200 3 39481512 intron variant T/C snv 0.76
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1768208
rs1768208
0.851 0.200 3 39481512 intron variant T/C snv 0.76
Behavioral variant of frontotemporal dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1768244
rs1768244
1.000 3 39500688 intron variant C/A snv 0.36
Diarrhoea predominant irritable bowel syndrome
0.010 1.000 1 2011 2011
dbSNP: rs10675541
rs10675541
1.000 0.120 3 39468795 intron variant -/CA delins
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1707957
rs1707957
1.000 0.040 3 39482000 intron variant C/A snv 0.28
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia
Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1768208
rs1768208
0.851 0.200 3 39481512 intron variant T/C snv 0.76
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration
Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs616147
rs616147
0.827 0.080 3 39492990 intron variant A/G snv 0.76
Amyotrophic Lateral Sclerosis, Sporadic
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs616147
rs616147
0.827 0.080 3 39492990 intron variant A/G snv 0.76
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs616147
rs616147
0.827 0.080 3 39492990 intron variant A/G snv 0.76
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs616147
rs616147
0.827 0.080 3 39492990 intron variant A/G snv 0.76
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
0.700 1.000 1 2017 2017
dbSNP: rs616147
rs616147
0.827 0.080 3 39492990 intron variant A/G snv 0.76
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
0.700 1.000 1 2017 2017
dbSNP: rs538867
rs538867
1.000 0.080 3 39471787 intron variant C/T snv 9.5E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.800 1.000 1 2014 2014
dbSNP: rs864643
rs864643
1.000 0.040 3 39514089 3 prime UTR variant A/G snv 0.32
Attention deficit hyperactivity disorder
Mental Disorders 0.800 1.000 1 2008 2008
dbSNP: rs1768208
rs1768208
0.851 0.200 3 39481512 intron variant T/C snv 0.76
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.830 1.000 4 2011 2016