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: rs324011
rs324011
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.020 1.000 2 2014 2018
dbSNP: rs324015
rs324015
5 0.827 0.120 12 57096317 3 prime UTR variant T/C snv 0.76 0.020 1.000 2 2014 2014
dbSNP: rs4559
rs4559
3 0.882 0.080 12 57095865 3 prime UTR variant C/T snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs71802646
rs71802646
3 0.882 0.080 12 57111290 5 prime UTR variant ACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACAC;ACACACACACACACACACACACACAC delins 0.32 0.010 1.000 1 2014 2014