EBF2, EBF transcription factor 2, 64641

N. diseases: 27; 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: rs774679542
rs774679542
1.000 0.080 8 26042168 missense variant G/A snv 4.0E-06
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018