rs119477054, UBR1

N. diseases: 1
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.
Johanson-Blizzard syndrome
CUI: C0175692
Disease: Johanson-Blizzard syndrome
9 1.000 0.360 15 43082648 missense variant T/A;C snv 4.0E-06 0.700 0