GRK4, G protein-coupled receptor kinase 4, 2868

N. diseases: 21; N. variants: 10
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: rs1419046
rs1419046
1.000 0.120 4 2984322 intron variant T/A snv 0.39
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs2471336
rs2471336
1.000 0.120 4 2995884 intron variant T/C snv 0.32
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs2857845
rs2857845
1.000 0.120 4 3026386 intron variant A/T snv 0.11
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs2960308
rs2960308
1.000 0.120 4 2989313 intron variant G/A snv 0.48
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2012 2012