Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P ×
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: rs759312530
rs759312530 		1.000 9 127502807 missense variant T/C snv
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.800 1.000 5 2010 2016
dbSNP: rs1554763035
rs1554763035 		1.000 9 127502829 frameshift variant A/- del
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 1.000 4 2012 2017
dbSNP: rs1345228128
rs1345228128 		1.000 9 127473817 stop gained C/G;T snv 4.0E-06
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 1.000 1 2010 2010
dbSNP: rs138226428
rs138226428 		1.000 9 127487695 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 1.000 1 2010 2010
dbSNP: rs746455518
rs746455518 		1.000 9 127479980 splice donor variant T/C;G snv 4.0E-06
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 1.000 1 2010 2010
dbSNP: rs756880678
rs756880678 		0.925 0.080 9 127501009 splice acceptor variant G/A snv 2.0E-05 2.8E-05
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 1.000 1 2010 2010
dbSNP: rs876661208
rs876661208 		1.000 9 127501098 frameshift variant TGGAGGTGCAGGC/- delins
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 1.000 1 2018 2018
dbSNP: rs879253755
rs879253755 		1.000 9 127502795 missense variant T/C snv
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 1.000 1 2014 2014
dbSNP: rs1564287871
rs1564287871 		1.000 9 127502825 inframe insertion -/CCACTGCGCACCTGCCCGCTGTGCCGCCAG delins
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 0
dbSNP: rs387907032
rs387907032 		1.000 9 127501011 missense variant G/A;C snv 8.0E-06
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 0
dbSNP: rs749012928
rs749012928 		1.000 9 127495414 frameshift variant T/- del 7.0E-06
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 0
dbSNP: rs786200930
rs786200930 		0.925 0.080 9 127502846 frameshift variant -/GC delins
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 0
dbSNP: rs886041051
rs886041051 		1.000 9 127502808 missense variant G/A snv
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.700 0