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: rs1057519788
rs1057519788
5 0.925 0.080 6 117317184 missense variant C/T snv 0.030 1.000 3 2015 2019
dbSNP: rs1213277193
rs1213277193
2 1.000 0.080 6 117359856 missense variant C/T snv 1.4E-05 0.020 1.000 2 2019 2019