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.
Baller-Gerold syndrome
CUI: C0265308
Disease: Baller-Gerold syndrome
54 1.000 0.080 8 144516248 frameshift variant C/- delins 1.4E-05 0.700 1.000 2 2003 2003