GNB5, G protein subunit beta 5, 10681

N. diseases: 29; N. variants: 7
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: rs761399728
rs761399728 		0.851 0.040 15 52153947 missense variant G/A snv 5.6E-05 7.0E-06
CUI: C4310678
Disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 		0.800 1.000 2 2016 2016
dbSNP: rs17612706
rs17612706 		15 52150779 intron variant C/T snv 1.6E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs749597091
rs749597091 		1.000 15 52124617 stop gained G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06
CUI: C4310682
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		0.700 0
dbSNP: rs761399728
rs761399728 		0.851 0.040 15 52153947 missense variant G/A snv 5.6E-05 7.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs761399728
rs761399728 		0.851 0.040 15 52153947 missense variant G/A snv 5.6E-05 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs761399728
rs761399728 		0.851 0.040 15 52153947 missense variant G/A snv 5.6E-05 7.0E-06
CUI: C2712133
Disease: Actual Effective Cognition
Actual Effective Cognition 		0.700 0
dbSNP: rs761399728
rs761399728 		0.851 0.040 15 52153947 missense variant G/A snv 5.6E-05 7.0E-06
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 0
dbSNP: rs761399728
rs761399728 		0.851 0.040 15 52153947 missense variant G/A snv 5.6E-05 7.0E-06
CUI: C4310682
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		0.700 0
dbSNP: rs766004901
rs766004901 		1.000 15 52153937 splice region variant T/C snv 8.0E-06 7.0E-06
CUI: C4310682
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		0.700 0
dbSNP: rs773902879
rs773902879 		1.000 15 52124529 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C4310682
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		0.700 0
dbSNP: rs886041054
rs886041054 		1.000 15 52153940 splice region variant C/T snv
CUI: C4310682
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		0.700 0
dbSNP: rs886041055
rs886041055 		1.000 15 52153939 splice donor variant C/A snv
CUI: C4310682
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		0.700 0