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: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.030 1.000 3 2008 2019
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2013 2018
dbSNP: rs1042778
rs1042778
3 0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv 0.020 1.000 2 2018 2019
dbSNP: rs237889
rs237889
2 0.925 0.040 3 8760797 intron variant T/C snv 0.71 0.020 1.000 2 2008 2016
dbSNP: rs237897
rs237897
1 1.000 0.040 3 8766599 intron variant A/C;G snv 0.020 1.000 2 2008 2016
dbSNP: rs13316193
rs13316193
4 0.882 0.040 3 8761057 intron variant T/C snv 0.45 0.010 1.000 1 2008 2008
dbSNP: rs2268493
rs2268493
3 0.882 0.040 3 8759154 intron variant T/C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs2268494
rs2268494
1 1.000 0.040 3 8760360 intron variant T/A snv 6.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs2268498
rs2268498
7 0.827 0.080 3 8770725 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs237902
rs237902
3 0.925 0.040 3 8767498 synonymous variant G/A snv 0.29 0.31 0.010 1.000 1 2018 2018
dbSNP: rs35062132
rs35062132
1 1.000 0.040 3 8753021 missense variant G/A;C snv 1.6E-05; 3.4E-04 0.010 1.000 1 2015 2015