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: rs12561919
rs12561919
3 1.000 0.040 1 11779866 missense variant C/T snv 0.13 0.13 0.700 1.000 1 2018 2018
dbSNP: rs4846044
rs4846044
2 1 11779941 missense variant T/C;G snv 0.95 0.700 1.000 1 2018 2018
dbSNP: rs72640211
rs72640211
1 1 11778705 synonymous variant G/A snv 4.4E-02 4.8E-02 0.700 1.000 1 2018 2018