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: rs78212183
rs78212183
0.925 0.120 22 31817998 intron variant T/C snv 1.1E-02
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017