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: rs747711259
rs747711259
1.000 0.080 1 156868568 missense variant T/C snv 1.4E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 5 1999 2016