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: rs797045060
rs797045060
1.000 0.080 1 156873822 missense variant G/A;C snv 1.2E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016