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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 16 1997 2017
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.020 1.000 2 2011 2012
dbSNP: rs1445081098
rs1445081098
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008