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: rs63750759
rs63750759
11 0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06 0.800 1.000 1 2012 2012
dbSNP: rs537233133
rs537233133
1 1.000 16 16188841 missense variant G/A;T snv 2.3E-04 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs72653758
rs72653758
2 0.925 0.160 16 16202113 missense variant A/C snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs72653762
rs72653762
13 0.851 0.240 16 16202006 missense variant T/C snv 5.6E-03 4.7E-03 0.700 1.000 1 2012 2012
dbSNP: rs28939701
rs28939701
12 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
dbSNP: rs387906859
rs387906859
2 0.925 0.160 16 16150765 missense variant G/T snv 0.700 0
dbSNP: rs387906860
rs387906860
1 1.000 16 16219577 frameshift variant -/G delins 5.1E-05 0.700 0
dbSNP: rs63749794
rs63749794
7 0.925 0.160 16 16163159 missense variant G/A snv 9.2E-05 4.2E-05 0.700 0
dbSNP: rs63749856
rs63749856
11 0.851 0.200 16 16155010 missense variant C/T snv 4.8E-05 2.8E-05 0.700 0
dbSNP: rs63750273
rs63750273
9 0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05 0.700 0
dbSNP: rs63751001
rs63751001
13 0.790 0.240 16 16159555 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs67561842
rs67561842
6 0.925 0.160 16 16178919 missense variant C/A;G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs72650700
rs72650700
12 0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs72653706
rs72653706
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
dbSNP: rs72653772
rs72653772
16 0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 0.700 0
dbSNP: rs72664209
rs72664209
12 0.827 0.240 16 16173283 splice donor variant C/A snv 8.0E-06; 1.2E-04 1.7E-04 0.700 0