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: rs11820589
rs11820589
5 1.000 0.040 11 116763146 missense variant G/A snv 7.8E-02 0.10 0.700 1.000 1 2012 2012
dbSNP: rs180327
rs180327
5 11 116752943 intron variant C/T snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs28927680
rs28927680
4 11 116748357 3 prime UTR variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs6589565
rs6589565
5 11 116769521 intron variant A/G snv 0.93 0.700 1.000 1 2012 2012