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: rs16856823
rs16856823
3 2 169343942 intron variant A/T snv 4.6E-02 0.700 1.000 2 2018 2019
dbSNP: rs2075251
rs2075251
1 2 169154948 intron variant T/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs2390793
rs2390793
1 2 169348613 intron variant C/A;T snv 0.700 1.000 2 2019 2019
dbSNP: rs147287428
rs147287428
2 2 169206713 missense variant C/T snv 2.7E-04 4.7E-04 0.700 1.000 1 2018 2018
dbSNP: rs2544390
rs2544390
4 0.925 0.080 2 169348336 intron variant C/T snv 0.45 0.700 1.000 1 2010 2010
dbSNP: rs9287911
rs9287911
1 2 169180784 intron variant A/C;T snv 0.700 1.000 1 2019 2019