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: rs1287121256
rs1287121256
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 1.000 1 2017 2017