rs1557175424, FLNA

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.
Malformations of Cortical Development, Group II
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
101 0.925 0.080 X 154350030 splice donor variant C/T snv 0.700 1.000 1 2018 2018
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
38 0.925 0.080 X 154350030 splice donor variant C/T snv 0.700 1.000 1 2018 2018