DSCAM, DS cell adhesion molecule, 1826

N. diseases: 45; N. variants: 12
Source: ALL
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: rs1419539530
rs1419539530
1.000 0.080 21 40189232 missense variant G/A snv 9.5E-06 7.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs2837770
rs2837770
1.000 0.080 21 40662426 intron variant G/A snv 0.34
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018