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: rs704180
rs704180 		0.807 0.240 12 21841177 intron variant A/G snv 0.55
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.030 1.000 3 2015 2017
dbSNP: rs704180
rs704180 		0.807 0.240 12 21841177 intron variant A/G snv 0.55
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2016 2017
dbSNP: rs11046205
rs11046205 		12 21839392 intron variant G/A snv 0.19
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2013 2013
dbSNP: rs11046205
rs11046205 		12 21839392 intron variant G/A snv 0.19
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs139975827
rs139975827 		12 21915227 intron variant G/A snv 0.43
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs1517284
rs1517284 		0.925 0.040 12 21835154 intron variant T/G snv 0.12
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs1517284
rs1517284 		0.925 0.040 12 21835154 intron variant T/G snv 0.12
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2307024
rs2307024 		12 21852069 intron variant T/A;G snv 4.0E-06; 0.38
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs4148660
rs4148660 		0.925 0.120 12 21906683 intron variant C/G snv 0.35
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs4148660
rs4148660 		0.925 0.120 12 21906683 intron variant C/G snv 0.35
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs704180
rs704180 		0.807 0.240 12 21841177 intron variant A/G snv 0.55
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs704180
rs704180 		0.807 0.240 12 21841177 intron variant A/G snv 0.55
CUI: C0878486
Disease: Arteriolosclerosis
Arteriolosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs704180
rs704180 		0.807 0.240 12 21841177 intron variant A/G snv 0.55
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs704180
rs704180 		0.807 0.240 12 21841177 intron variant A/G snv 0.55
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1024095026
rs1024095026 		12 21887879 stop gained G/A snv 1.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs193922683
rs193922683 		12 21852457 stop gained G/A snv 1.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1555179320
rs1555179320 		0.925 0.040 12 21817283 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1999 2013
dbSNP: rs1555179320
rs1555179320 		0.925 0.040 12 21817283 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 8 1999 2013
dbSNP: rs1555179320
rs1555179320 		0.925 0.040 12 21817283 missense variant C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 8 1999 2013
dbSNP: rs387907209
rs387907209 		0.925 0.200 12 21842326 missense variant C/G;T snv 4.0E-06
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		Cardiovascular Diseases 0.700 1.000 4 2012 2017
dbSNP: rs387907211
rs387907211 		1.000 0.200 12 21908099 missense variant G/A snv
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.810 1.000 4 2012 2018
dbSNP: rs387907227
rs387907227 		1.000 0.200 12 21842440 missense variant C/A;T snv
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 4 2012 2015
dbSNP: rs1165205076
rs1165205076 		1.000 0.200 12 21910852 missense variant C/A snv
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2012 2015
dbSNP: rs387907208
rs387907208 		0.851 0.200 12 21842327 missense variant G/A;C snv
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 3 2012 2015
dbSNP: rs387907209
rs387907209 		0.925 0.200 12 21842326 missense variant C/G;T snv 4.0E-06
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 3 2012 2015