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.
VERHEIJ SYNDROME
CUI: C3810023
Disease: VERHEIJ SYNDROME
11 1.000 8 143817402 frameshift variant AG/GGGGCTGGGCCAGGGTCAA delins 0.700 0