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: rs16991615
rs16991615
6 0.925 0.080 20 5967581 missense variant G/A snv 4.5E-02 4.2E-02 0.800 1.000 6 2009 2019
dbSNP: rs236114
rs236114
2 1.000 0.040 20 5954739 intron variant T/C snv 0.84 0.84 0.800 1.000 2 2009 2013
dbSNP: rs451417
rs451417
1 20 5961353 intron variant C/A;T snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs76498344
rs76498344
1 20 5970805 intron variant T/C snv 7.2E-02 0.700 1.000 1 2018 2018