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: rs1060499547
rs1060499547
1.000 9 130862890 missense variant A/G snv
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology
0.700 1.000 1 2017 2017