Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1135401744
rs1135401744
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
0.700 1.000 1 2017 2017