rs1057516614, VPS13B

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.
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
292 1.000 0.320 8 99835676 frameshift variant CC/- del 0.700 0