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: rs12942547
rs12942547
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs113994136
rs113994136
7 0.827 0.240 17 42329642 missense variant C/A;T snv 0.020 1.000 2 2011 2013