Source: BEFREE

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: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I
0.010 1.000 1 2020 2020
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
0.010 1.000 1 2020 2020
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.010 1.000 1 2020 2020
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
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: 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: 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: 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: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
0.010 1.000 1 2020 2020
dbSNP: rs893924483
rs893924483
0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
0.010 1.000 1 2020 2020
dbSNP: rs893924483
rs893924483
0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I
0.010 1.000 1 2020 2020
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0521991
Disease: Symptoms of stress
Symptoms of stress
0.020 1.000 2 2019 2019
dbSNP: rs7124442
rs7124442
0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
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: C0521991
Disease: Symptoms of stress
Symptoms of stress
0.020 1.000 2 2019 2019
dbSNP: rs1048220
rs1048220
1.000 0.040 11 27658191 missense variant C/A snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.010 1.000 1 2019 2019
dbSNP: rs1415125856
rs1415125856
0.827 0.120 11 27658550 splice region variant G/A snv 4.0E-06 2.1E-05
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.010 1.000 1 2019 2019
dbSNP: rs1415125856
rs1415125856
0.827 0.120 11 27658550 splice region variant G/A snv 4.0E-06 2.1E-05
CUI: C0549622
Disease: Sexual Dysfunction
Sexual Dysfunction
0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0029134
Disease: Optic Neuritis
Optic Neuritis
0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome
0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C2985290
Disease: Fetal Alcohol Spectrum Disorders
Fetal Alcohol Spectrum Disorders
0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0003537
Disease: Aphasia
Aphasia
0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity
0.010 1.000 1 2019 2019