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: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.030 0.667 3 2006 2017
dbSNP: rs6972158
rs6972158
2 0.925 0.080 7 34849570 missense variant A/G snv 0.28 0.34 0.010 1.000 1 2013 2013
dbSNP: rs740347
rs740347
2 0.925 0.160 7 34772690 intron variant G/A;C;T snv 0.010 1.000 1 2009 2009