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.
HOLOPROSENCEPHALY 2 (disorder)
CUI: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
12 0.925 0.120 2 44942489 stop gained G/T snv 0.700 0
Schizencephaly
CUI: C0266484
Disease: Schizencephaly
6 0.925 0.120 2 44942489 stop gained G/T snv 0.700 0