GNB4, G protein subunit beta 4, 59345

N. diseases: 25; N. variants: 7
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F ×
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: 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