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: rs398122810
rs398122810
1.000 0.080 1 156861141 frameshift variant TG/- del 7.0E-06
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0