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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2018 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2018 2019
dbSNP: rs17683288
rs17683288
2 0.925 0.080 8 1929314 missense variant T/G snv 5.4E-02 5.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1903216
rs1903216
1 1.000 0.040 3 187911715 intergenic variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs2294039
rs2294039
2 0.925 0.080 8 1909425 missense variant G/A snv 3.1E-02 3.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs4618330
rs4618330
1 1.000 0.040 4 126757231 intergenic variant A/G snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs4687753
rs4687753
1 1.000 0.040 3 53861434 non coding transcript exon variant A/C snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs7349683
rs7349683
3 0.925 0.080 4 65332086 synonymous variant C/A;T snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs8014839
rs8014839
1 1.000 0.040 14 39374915 intron variant A/G;T snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs9657362
rs9657362
3 0.882 0.120 8 1885635 missense variant G/C;T snv 0.16 0.010 1.000 1 2015 2015