rs121434484, PAFAH1B1

N. diseases: 2
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 2670268 missense variant T/C snv 0.700 1.000 2 1999 2003
Subcortical Band Heterotopia
CUI: C1848201
Disease: Subcortical Band Heterotopia
3 0.925 0.080 17 2670268 missense variant T/C snv 0.700 0