HK1, hexokinase 1, 3098

N. diseases: 161; N. variants: 25
Disease: Neuropathy, hereditary motor and sensory, Russe type ×
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: rs797044964
rs797044964 		1.000 0.080 10 69278691 5 prime UTR variant G/C snv
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2000 2013
dbSNP: rs1057517928
rs1057517928 		0.882 0.080 10 69382591 missense variant C/T snv
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs397514654
rs397514654 		1.000 0.080 10 69278711 5 prime UTR variant G/C snv
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0