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: rs11466112
rs11466112
1.000 0.080 1 115286135 missense variant G/A snv 1.6E-05 7.0E-06
Hereditary Sensory Autonomic Neuropathy, Type 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2019 2019
dbSNP: rs1272434944
rs1272434944
1.000 0.080 1 115286435 missense variant G/A snv 4.0E-06
Hereditary Sensory Autonomic Neuropathy, Type 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs769190598
rs769190598
1.000 0.080 1 115286188 missense variant G/A snv 4.0E-06 7.0E-06
Hereditary Sensory Autonomic Neuropathy, Type 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018