Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E ×
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: rs387907034
rs387907034 		1.000 14 104701675 missense variant T/C snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.800 1.000 5 2011 2015
dbSNP: rs387907035
rs387907035 		1.000 14 104701676 missense variant G/A;T snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.800 1.000 5 2011 2015
dbSNP: rs387907036
rs387907036 		1.000 14 104701677 missense variant C/G;T snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.800 1.000 5 2011 2015
dbSNP: rs387907037
rs387907037 		1.000 14 104701748 missense variant T/C snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.800 1.000 5 2011 2015
dbSNP: rs387907038
rs387907038 		1.000 14 104703108 missense variant T/G snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.800 1.000 5 2011 2015
dbSNP: rs1555373599
rs1555373599 		0.925 0.080 14 104703195 inframe deletion GCCCTGGAC/- delins
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 1.000 1 2011 2011
dbSNP: rs1555373363
rs1555373363 		1.000 14 104701679 missense variant T/A snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 0