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: rs145104523
rs145104523
1 21 39272184 intron variant C/T snv 9.3E-02 0.700 1.000 2 2018 2018
dbSNP: rs1541102
rs1541102
1 21 39256839 intron variant C/T snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs2836974
rs2836974
1 21 39291255 intron variant G/A;C snv 0.700 1.000 1 2015 2015