Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs745895675
rs745895675
0.784 0.071 16 2085299 missense variant G/A snp 2.8E-05
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1 2017 2017