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: rs121908120
rs121908120
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs72966077
rs72966077
1 1.000 0.040 2 218894507 intron variant C/T snv 3.3E-02 0.700 1.000 1 2018 2018