rs119477055, 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 43048394 stop gained G/A snv 7.0E-06 0.700 0