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 0.090 0.778 9 1999 2016
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2008 2008
dbSNP: rs2075507
rs2075507
2 0.925 0.040 22 19940569 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2097603
rs2097603
3 0.882 0.040 22 19940569 intron variant G/A;T snv 0.010 1.000 1 2008 2008