Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA ×
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: rs104894345
rs104894345 		0.827 0.080 12 119187080 missense variant G/C;T snv
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2004 2017
dbSNP: rs104894351
rs104894351 		0.827 0.080 12 119187078 missense variant A/C;G snv
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2004 2017
dbSNP: rs1565929080
rs1565929080 		1.000 0.080 12 119187070 missense variant A/C snv
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0