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: rs10947261
rs10947261
4 0.882 0.240 6 32405455 splice region variant G/T snv 0.11 0.700 1.000 1 2009 2009
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.700 1.000 1 2009 2009
dbSNP: rs2076533
rs2076533
3 0.882 0.200 6 32395750 intron variant C/T snv 0.40 0.700 1.000 1 2009 2009
dbSNP: rs3806156
rs3806156
5 0.827 0.280 6 32405921 intron variant G/A;T snv 0.700 1.000 1 2009 2009