rs386833747, 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 15553306 splice donor variant G/A;C snv 4.1E-06 0.700 0