rs606231197, PQBP1

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.
Renpenning syndrome 1
CUI: C0796135
Disease: Renpenning syndrome 1
5 1.000 0.080 X 48902484 frameshift variant GAGCTGGCTCCCTATCCCAAGAG/- delins 0.700 0