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: rs121434396
rs121434396 		1.000 0.200 2 171787637 missense variant T/C snv 8.0E-06
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2009 2014
dbSNP: rs886037851
rs886037851 		1.000 0.200 2 171813452 missense variant C/T snv
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2009 2014
dbSNP: rs1400816
rs1400816 		0.851 0.080 2 171824168 intron variant A/C snv 0.81
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1400816
rs1400816 		0.851 0.080 2 171824168 intron variant A/C snv 0.81
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1400816
rs1400816 		0.851 0.080 2 171824168 intron variant A/C snv 0.81
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs1400816
rs1400816 		0.851 0.080 2 171824168 intron variant A/C snv 0.81
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs17428076
rs17428076 		1.000 0.040 2 171987022 intron variant C/G snv 0.18
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2165934
rs2165934 		2 171955818 intron variant A/G snv 0.66
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs9784123
rs9784123 		1.000 0.040 2 171928495 intron variant T/A snv 0.28
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs9784123
rs9784123 		1.000 0.040 2 171928495 intron variant T/A snv 0.28
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1553469156
rs1553469156 		1.000 0.200 2 171787915 missense variant C/T snv
CUI: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs2056202
rs2056202 		0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.040 1.000 4 2005 2010
dbSNP: rs2056202
rs2056202 		0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.040 1.000 4 2008 2017
dbSNP: rs2292813
rs2292813 		0.882 0.040 2 171787719 intron variant T/C snv 0.81
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.040 1.000 4 2008 2017
dbSNP: rs2292813
rs2292813 		0.882 0.040 2 171787719 intron variant T/C snv 0.81
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.040 1.000 4 2005 2010
dbSNP: rs2056202
rs2056202 		0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77
CUI: C0233622
Disease: Ritual compulsion
Ritual compulsion 		Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs2056202
rs2056202 		0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2008 2008
dbSNP: rs2292813
rs2292813 		0.882 0.040 2 171787719 intron variant T/C snv 0.81
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2008 2008