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: rs145303331
rs145303331
1.000 0.360 17 16316686 missense variant T/C snv 4.1E-04 6.1E-04
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.810 1.000 2 2012 2019
dbSNP: rs7477
rs7477
1.000 0.080 17 16342702 3 prime UTR variant A/C snv 0.38
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 2 2013 2014
dbSNP: rs1029809
rs1029809
17 16252921 intron variant A/G snv 0.41
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs12936529
rs12936529
17 16265470 intron variant C/T snv 0.42
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs12936529
rs12936529
17 16265470 intron variant C/T snv 0.42
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
0.700 1.000 1 2016 2016
dbSNP: rs12936529
rs12936529
17 16265470 intron variant C/T snv 0.42
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs178785
rs178785
17 16232975 intron variant C/A;G;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs35565381
rs35565381
17 16271711 intron variant T/C snv 0.41
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2017 2017
dbSNP: rs4792728
rs4792728
17 16283501 intron variant C/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs74267027
rs74267027
17 16268374 intron variant TT/- delins 0.40
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs74267027
rs74267027
17 16268374 intron variant TT/- delins 0.40
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2016 2016
dbSNP: rs74267027
rs74267027
17 16268374 intron variant TT/- delins 0.40
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs139004722
rs139004722
1.000 0.360 17 16317900 stop gained C/A;G;T snv 4.0E-06; 8.0E-06
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs758633805
rs758633805
1.000 0.360 17 16234009 frameshift variant C/- del 4.0E-06
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs770084126
rs770084126
1.000 0.360 17 16313546 splice acceptor variant G/A snv 8.0E-06 3.5E-05
CUI: C1848392
Disease: Zunich neuroectodermal syndrome
Zunich neuroectodermal syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0