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: rs1805097
rs1805097
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs35753505
rs35753505
6 0.827 0.080 8 31616625 intergenic variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs10868235
rs10868235
6 0.925 0.040 9 84878840 intron variant C/T snv 0.40 0.020 1.000 2 2017 2017
dbSNP: rs1867283
rs1867283
5 0.925 0.080 9 84835851 intron variant G/A snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs2302515
rs2302515
1 1.000 0.040 12 7652640 missense variant C/G snv 0.78 0.76 0.010 1.000 1 2017 2017
dbSNP: rs4523957
rs4523957
SMG6 ; SRR
9 0.790 0.120 17 2305605 intron variant G/T snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs1799768
rs1799768
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2019 2019
dbSNP: rs2020918
rs2020918
2 0.925 0.080 8 42214920 intergenic variant A/G snv 0.71 0.010 1.000 1 2019 2019