rs113994198, PAFAH1B1

N. diseases: 4
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.
Classical Lissencephaly
CUI: C0431375
Disease: Classical Lissencephaly
97 0.925 0.080 17 2666053 frameshift variant A/-;AA delins 0.700 1.000 3 1999 2003
Ectopic Tissue
CUI: C0008519
Disease: Ectopic Tissue
4 0.925 0.080 17 2666053 frameshift variant A/-;AA delins 0.700 1.000 3 1999 2003
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.080 17 2666053 frameshift variant A/-;AA delins 0.700 1.000 3 1999 2003
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.080 17 2666053 frameshift variant A/-;AA delins 0.700 1.000 3 1999 2003