Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I
0.010 1.000 1 2020 2020
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.010 1.000 1 2020 2020
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
0.010 1.000 1 2020 2020
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0149654
Disease: Conduct Disorder
Conduct Disorder
0.010 1.000 1 2020 2020
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0521991
Disease: Symptoms of stress
Symptoms of stress
0.020 1.000 2 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0029134
Disease: Optic Neuritis
Optic Neuritis
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0549622
Disease: Sexual Dysfunction
Sexual Dysfunction
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0233397
Disease: Psychological symptom
Psychological symptom
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
Depressive Disorder, Treatment-Resistant
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C2985290
Disease: Fetal Alcohol Spectrum Disorders
Fetal Alcohol Spectrum Disorders
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
Peripheral neuropathy due to and following chemotherapy
0.020 1.000 2 2018 2019
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.010 1.000 1 2018 2018
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis
0.010 < 0.001 1 2018 2018
dbSNP: rs759834365
rs759834365
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.010 1.000 1 2018 2018