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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.917 24 1998 2019
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.050 1.000 5 2013 2019
dbSNP: rs869109213
rs869109213
10 0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins 0.010 1.000 1 2019 2019