Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1565688667
rs1565688667
1 1.000 0.080 12 43786398 splice acceptor variant G/T snv 0.700 0
dbSNP: rs944235493
rs944235493
1 1.000 0.080 12 43784244 intron variant A/G snv 2.1E-05 0.700 0