rs1555526309, PAFAH1B1

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.
Classical Lissencephaly
CUI: C0431375
Disease: Classical Lissencephaly
97 1.000 0.080 17 2666074 frameshift variant T/- delins 0.700 0