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: rs2267386
rs2267386
0.925 0.080 22 38436107 intron variant G/A snv 2.7E-02
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
0.700 1.000 1 2014 2014