NAGLU, N-acetyl-alpha-glucosaminidase, 4669

N. diseases: 152; N. variants: 98
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V ×
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: rs796052122
rs796052122 		1.000 17 42543214 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.800 1.000 1 2015 2015
dbSNP: rs148881970
rs148881970 		0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 1.000 5 1998 2016
dbSNP: rs753520553
rs753520553 		0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 1.000 4 1998 2016
dbSNP: rs104894591
rs104894591 		0.925 0.120 17 42543882 stop gained C/G;T snv 4.4E-06; 2.2E-05
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 1.000 3 1996 1999
dbSNP: rs104894590
rs104894590 		0.925 0.120 17 42544027 missense variant G/A;T snv 1.6E-05
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 1.000 1 1998 1998
dbSNP: rs768814260
rs768814260 		0.925 0.120 17 42543247 missense variant A/G snv 2.4E-05 7.0E-06
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 1.000 1 2004 2004
dbSNP: rs147036053
rs147036053 		0.925 0.120 17 42543906 missense variant G/A snv 1.3E-05 4.2E-05
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 0