Source: ALL
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: rs397507481
rs397507481
0.882 0.240 7 140754206 missense variant G/C;T snv
CUI: C0024433
Disease: Macrostomia
Macrostomia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0