ARRB2, arrestin beta 2, 409

N. diseases: 119; N. variants: 6
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: rs144830084
rs144830084
17 4714806 non coding transcript exon variant A/T snv 0.15
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs8071086
rs8071086
17 4709571 upstream gene variant A/G snv 0.33
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs9913156
rs9913156
17 4721671 downstream gene variant C/G;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs1045280
rs1045280
0.882 0.160 17 4719343 synonymous variant C/T snv 0.71 0.62
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.020 0.500 2 2007 2008
dbSNP: rs1045280
rs1045280
0.882 0.160 17 4719343 synonymous variant C/T snv 0.71 0.62
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1045280
rs1045280
0.882 0.160 17 4719343 synonymous variant C/T snv 0.71 0.62
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2008 2008
dbSNP: rs2036657
rs2036657
1.000 0.040 17 4721864 downstream gene variant G/A snv 0.62
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 < 0.001 1 2007 2007
dbSNP: rs4522461
rs4522461
0.925 0.120 17 4718478 intron variant T/G snv 0.82
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4522461
rs4522461
0.925 0.120 17 4718478 intron variant T/G snv 0.82
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis
Stomatognathic Diseases 0.010 1.000 1 2018 2018