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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2017 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2017 2020
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2016 2016
dbSNP: rs11021499
rs11021499
1 1.000 0.040 11 96258965 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1582417
rs1582417
2 0.925 0.040 5 160470494 intron variant A/G snv 0.80 0.010 1.000 1 2020 2020
dbSNP: rs17057846
rs17057846
2 0.925 0.040 5 160475306 intron variant G/A snv 0.13 0.010 1.000 1 2020 2020
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs2431689
rs2431689
3 0.882 0.040 5 160472115 intron variant G/A snv 0.17 0.010 1.000 1 2020 2020
dbSNP: rs55705857
rs55705857
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs58747524
rs58747524
2 0.925 0.040 5 160484577 intron variant T/C snv 0.14 0.010 1.000 1 2020 2020