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: rs3024493
rs3024493
7 0.776 0.280 1 206770623 intron variant C/A;T snv 0.11 0.800 1.000 3 2009 2016
dbSNP: rs12075255
rs12075255
5 0.827 0.120 1 206788283 intron variant A/G snv 0.74 0.700 1.000 1 2016 2016