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: rs11158026
rs11158026
1 1.000 0.040 14 54882151 intron variant C/A;G;T snv 0.730 1.000 6 2014 2018
dbSNP: rs770547722
rs770547722
1 1.000 0.040 14 54902425 missense variant C/T snv 8.8E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs841
rs841
8 0.827 0.200 14 54843774 splice region variant G/A snv 0.22 0.22 0.010 1.000 1 2019 2019