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: rs281860350
rs281860350
1 1.000 0.040 6 31271780 synonymous variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs67384697
rs67384697
2 1.000 0.040 6 31268906 3 prime UTR variant C/- delins 6.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs75912596
rs75912596
1 1.000 0.040 6 31271093 missense variant T/C snv 0.010 1.000 1 2012 2012