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: rs77743549
rs77743549
1.000 0.080 7 30752287 missense variant A/C snv 7.6E-03 6.2E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2015 2015