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: rs267607109
rs267607109
0.827 0.160 5 136056754 missense variant C/A snv
Familial Amyloid Polyneuropathy, Type V
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 2004 2017