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 0.040 1.000 4 2006 2013
dbSNP: rs9332377
rs9332377
5 0.882 0.120 22 19968169 intron variant C/A;T snv 0.010 1.000 1 2010 2010