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: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		Nervous System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs1185460
rs1185460 		1.000 0.040 11 119072723 non coding transcript exon variant A/G snv 0.48
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs15818
rs15818 		11 119081463 missense variant A/G snv 0.36 0.40
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs3825061
rs3825061 		11 119073965 intron variant C/T snv 0.33 0.33
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs3825061
rs3825061 		11 119073965 intron variant C/T snv 0.33 0.33
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs7122226
rs7122226 		11 119081014 intron variant A/G snv 4.2E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7122226
rs7122226 		11 119081014 intron variant A/G snv 4.2E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7925100
rs7925100 		11 119070886 intron variant G/A snv 0.33
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C4225247
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 12
LEUKODYSTROPHY, HYPOMYELINATING, 12 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs34757931
rs34757931 		0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0