Disease: Hereditary Sensory Autonomic Neuropathy, Type 5 ×
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: rs748653984
rs748653984 		1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs778056858
rs778056858 		1.000 0.080 1 156866944 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2010 2018