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: rs1057519900
rs1057519900
3 0.882 0.120 10 121515259 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913474
rs121913474
9 0.790 0.200 10 121515260 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs387906678
rs387906678
5 0.851 0.120 10 121515263 missense variant A/C;G snv 0.700 1.000 1 2016 2016