PRX, periaxin, 57716

N. diseases: 75; N. variants: 21
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F ×
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: rs104894714
rs104894714 		0.925 0.080 19 40395495 stop gained G/A snv 3.2E-05
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		0.700 1.000 1 2001 2001
dbSNP: rs104894706
rs104894706 		0.925 0.080 19 40397766 stop gained G/A;C;T snv
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		0.700 0
dbSNP: rs104894708
rs104894708 		0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		0.700 0
dbSNP: rs1385904344
rs1385904344 		1.000 19 40394649 stop gained C/A;T snv 4.1E-06 1.4E-05
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		0.700 0
dbSNP: rs1568708792
rs1568708792 		1.000 19 40397373 frameshift variant C/- delins
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		0.700 0
dbSNP: rs281865061
rs281865061 		1.000 19 40398754 frameshift variant G/- delins
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		0.700 0
dbSNP: rs281865062
rs281865062 		1.000 19 40396254 frameshift variant C/- delins
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		0.700 0
dbSNP: rs3814290
rs3814290 		1.000 19 40396401 missense variant C/A;G;T snv 4.0E-06; 9.2E-05
CUI: C3540453
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F 		0.700 0