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: rs121909132
rs121909132
3 0.882 0.160 1 16048537 missense variant G/A snv 7.6E-05 6.3E-05 0.810 1.000 2 1997 2006
dbSNP: rs121909131
rs121909131
1 1.000 0.120 1 16047917 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.800 1.000 1 1997 1997
dbSNP: rs121909133
rs121909133
1 1.000 0.120 1 16051724 missense variant C/A;T snv 1.2E-04; 2.4E-05 0.800 1.000 1 1997 1997
dbSNP: rs121909134
rs121909134
1 1.000 0.120 1 16050593 missense variant C/A snv 7.0E-06 0.800 1.000 1 1997 1997
dbSNP: rs121909135
rs121909135
1 1.000 0.120 1 16051544 missense variant T/C snv 0.800 1.000 1 1997 1997
dbSNP: rs1057516207
rs1057516207
1 1.000 0.120 1 16051792 frameshift variant -/A delins 0.700 0
dbSNP: rs370221310
rs370221310
1 1.000 0.120 1 16055461 stop gained C/T snv 9.6E-05 2.8E-05 0.700 0
dbSNP: rs863224858
rs863224858
1 1.000 0.120 1 16055724 frameshift variant C/- delins 0.700 0
dbSNP: rs953686324
rs953686324
7 0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 0.700 0
dbSNP: rs201540273
rs201540273
2 0.925 0.160 1 16051725 missense variant G/A snv 2.4E-05 7.7E-05 0.010 1.000 1 2003 2003