GAK, cyclin G associated kinase, 2580

N. diseases: 13; 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: rs748055361
rs748055361
0.925 0.080 4 882749 missense variant A/G snv 4.0E-06
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2020 2020
dbSNP: rs748055361
rs748055361
0.925 0.080 4 882749 missense variant A/G snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs11248051
rs11248051
1.000 0.040 4 864544 intron variant C/G;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.820 1.000 3 2010 2014
dbSNP: rs11248051
rs11248051
1.000 0.040 4 864544 intron variant C/G;T snv
High density lipoprotein measurement
0.700 1.000 1 2018 2018
dbSNP: rs1564282
rs1564282
1.000 0.040 4 858525 intron variant C/T snv 8.1E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.870 0.889 9 2009 2015
dbSNP: rs1564282
rs1564282
1.000 0.040 4 858525 intron variant C/T snv 8.1E-02
CUI: C0040822
Disease: Tremor
Tremor
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1564282
rs1564282
1.000 0.040 4 858525 intron variant C/T snv 8.1E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2018 2018
dbSNP: rs4690203
rs4690203
4 887440 non coding transcript exon variant C/T snv 0.15
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs3775121
rs3775121
4 899732 intron variant G/A snv 0.33
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2012 2012
dbSNP: rs35541465
rs35541465
1.000 0.040 4 879499 intron variant TACT/-;TACTTACT delins
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2016 2016