GNB4, G protein subunit beta 4, 59345

N. diseases: 25; 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: rs387907340
rs387907340 		0.925 0.080 3 179419444 missense variant C/T snv
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.800 0
dbSNP: rs387907341
rs387907341 		1.000 3 179416495 missense variant T/C snv
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.800 0
dbSNP: rs4855074
rs4855074 		1.000 0.080 3 179450674 intron variant C/T snv 0.13
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4855075
rs4855075 		1.000 0.080 3 179452706 upstream gene variant C/T snv 0.13
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7611674
rs7611674 		3 179451442 5 prime UTR variant T/G snv 0.27
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1553851490
rs1553851490 		1.000 3 179416531 missense variant C/T snv
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.700 0
dbSNP: rs199615251
rs199615251 		0.925 0.080 3 179413452 missense variant T/C snv 4.0E-06
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.700 0
dbSNP: rs199615251
rs199615251 		0.925 0.080 3 179413452 missense variant T/C snv 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs387907340
rs387907340 		0.925 0.080 3 179419444 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013