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: rs1135401743
rs1135401743
0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
0.700 1.000 1 2017 2017