rs386833749, CC2D2A

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.
MECKEL SYNDROME, TYPE 6 (disorder)
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
24 1.000 0.200 4 15563423 frameshift variant G/- delins 4.2E-05 0.700 0