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: rs2249350
rs2249350
3 1.000 0.080 21 26950187 intron variant C/A snv 9.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs2830585
rs2830585
2 1.000 0.040 21 26932893 missense variant C/T snv 0.12 0.12 0.700 1.000 1 2018 2018
dbSNP: rs2830586
rs2830586
1 21 26933158 intron variant T/G snv 0.14 0.700 1.000 1 2018 2018