Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12220534
rs12220534
1.000 0.080 10 43238858 intron variant T/G snv 0.16
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 1.000 1 2009 2009