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: rs671600
rs671600
1.000 0.080 19 54845969 intron variant T/C snv 0.67
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 1 2009 2009