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: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae
0.700 1.000 1 2017 2017