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: rs397514667
rs397514667
1 1.000 12 6445445 missense variant G/A snv 0.810 1.000 2 2012 2013
dbSNP: rs398122933
rs398122933
1 1.000 12 6445119 stop gained G/A snv 0.700 0
dbSNP: rs748418658
rs748418658
1 1.000 12 6445525 frameshift variant -/A delins 1.6E-05 1.4E-05 0.700 0
dbSNP: rs779092602
rs779092602
1 1.000 12 6450897 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1211157801
rs1211157801
1 1.000 11 60467044 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013