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: rs1057519946
rs1057519946
0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C0239234
Disease: Low set ears
Low set ears
0.700 0