rs774679542, EBF2

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Anorectal Malformations
CUI: C3495676
Disease: Anorectal Malformations
6 1.000 0.080 8 26042168 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
9 1.000 0.080 8 26042168 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018