ARSG, arylsulfatase G, 22901

N. diseases: 48; N. variants: 11
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: rs11655081
rs11655081
0.851 0.080 17 68386068 intron variant T/C snv 0.18
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia
Nervous System Diseases 0.710 1.000 1 2014 2014
dbSNP: rs2302783
rs2302783
17 68450932 intron variant T/C snv 0.68 0.68
RDW - Red blood cell distribution width result
0.700 1.000 2 2017 2019
dbSNP: rs2302783
rs2302783
17 68450932 intron variant T/C snv 0.68 0.68
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs11655081
rs11655081
0.851 0.080 17 68386068 intron variant T/C snv 0.18
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs12940626
rs12940626
17 68432290 intron variant C/T snv 0.29
Red cell distribution width determination
0.700 1.000 1 2016 2016
dbSNP: rs12940626
rs12940626
17 68432290 intron variant C/T snv 0.29
RDW - Red blood cell distribution width result
0.700 1.000 1 2016 2016
dbSNP: rs12943181
rs12943181
1.000 0.040 17 68428200 intron variant G/C snv 0.24
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs35397826
rs35397826
17 68273941 missense variant A/G snv 0.12 0.11
CUI: C0201952
Disease: Chloride measurement
Chloride measurement
0.700 1.000 1 2018 2018
dbSNP: rs35397826
rs35397826
17 68273941 missense variant A/G snv 0.12 0.11
CUI: C0337443
Disease: Sodium measurement
Sodium measurement
0.700 1.000 1 2018 2018
dbSNP: rs4968794
rs4968794
17 68290054 intron variant T/A snv 0.36
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs6501468
rs6501468
17 68431555 intron variant T/C snv 0.77
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs78095701
rs78095701
17 68447468 intron variant A/C snv 0.12
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs1568445893
rs1568445893
0.925 0.200 17 68307626 missense variant G/T snv
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1568445893
rs1568445893
0.925 0.200 17 68307626 missense variant G/T snv
CUI: C4748364
Disease: USHER SYNDROME, TYPE IV
USHER SYNDROME, TYPE IV
0.700 0
dbSNP: rs11655081
rs11655081
0.851 0.080 17 68386068 intron variant T/C snv 0.18
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11655081
rs11655081
0.851 0.080 17 68386068 intron variant T/C snv 0.18
CUI: C0005747
Disease: Blepharospasm
Blepharospasm
Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11655081
rs11655081
0.851 0.080 17 68386068 intron variant T/C snv 0.18
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia
Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11655081
rs11655081
0.851 0.080 17 68386068 intron variant T/C snv 0.18
CUI: C0013421
Disease: Dystonia
Dystonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11655081
rs11655081
0.851 0.080 17 68386068 intron variant T/C snv 0.18
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia
Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs15673
rs15673
1.000 0.040 17 68267123 3 prime UTR variant C/A;T snv 7.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs15673
rs15673
1.000 0.040 17 68267123 3 prime UTR variant C/A;T snv 7.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61999318
rs61999318
0.925 0.040 17 68420363 missense variant T/C snv 2.5E-03 2.4E-03
CUI: C0154676
Disease: Organic writer's cramp
Organic writer's cramp
Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs61999318
rs61999318
0.925 0.040 17 68420363 missense variant T/C snv 2.5E-03 2.4E-03
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
Nervous System Diseases 0.010 1.000 1 2015 2015