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: rs1048990
rs1048990
8 0.790 0.280 14 35292469 5 prime UTR variant C/G;T snv 0.19; 4.0E-06 0.720 1.000 2 2008 2009
dbSNP: rs775381348
rs775381348
8 0.807 0.160 14 35308023 missense variant G/T snv 0.020 1.000 2 2010 2016