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: rs1345176461
rs1345176461
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1836003
Disease: Facial diplegia
Facial diplegia
Infections; Nervous System Diseases; Stomatognathic Diseases 0.700 0