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: rs1940709
rs1940709
2 1.000 0.040 11 112978997 intron variant G/A snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs1940728
rs1940728
2 1.000 0.040 11 112981473 intron variant G/A;T snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs72995548
rs72995548
2 1.000 0.040 11 113268199 non coding transcript exon variant C/T snv 3.5E-02 0.700 1.000 1 2018 2018