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: rs1555648043
rs1555648043
18 21440301 stop gained C/T snv
CUI: C4231418
Disease: Inner ear malformation
Inner ear malformation
0.700 0
dbSNP: rs1555661490
rs1555661490
18 21505949 missense variant G/T snv
CUI: C4231418
Disease: Inner ear malformation
Inner ear malformation
0.700 0