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: rs121908464
rs121908464
1 1.000 0.080 16 57661707 missense variant C/T snv 8.1E-06 2.8E-05 0.810 1.000 7 2004 2017
dbSNP: rs121908462
rs121908462
1 1.000 0.080 16 57651247 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 6 2004 2014
dbSNP: rs121908463
rs121908463
1 1.000 0.080 16 57656244 missense variant T/A snv 0.800 1.000 6 2004 2014
dbSNP: rs121908465
rs121908465
1 1.000 0.080 16 57651407 missense variant G/C snv 0.800 1.000 6 2004 2014
dbSNP: rs121908466
rs121908466
1 1.000 0.080 16 57651398 missense variant A/G snv 0.800 1.000 6 2004 2014
dbSNP: rs556518689
rs556518689
1 1.000 0.080 16 57659594 missense variant G/A snv 4.0E-06 7.0E-06 0.710 1.000 6 2004 2014
dbSNP: rs764367185
rs764367185
1 1.000 0.080 16 57651248 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 6 2004 2014
dbSNP: rs786204777
rs786204777
1 1.000 0.080 16 57650297 stop gained C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs146278035
rs146278035
4 0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1567782714
rs1567782714
5 0.882 0.120 16 57655528 stop gained C/T snv 0.700 0
dbSNP: rs532188689
rs532188689
1 1.000 0.080 16 57654133 missense variant G/C snv 1.2E-05 0.700 0
dbSNP: rs587776623
rs587776623
1 1.000 0.080 16 57656620 splice region variant G/A;C snv 0.700 0
dbSNP: rs587776624
rs587776624
1 1.000 0.080 16 57653985 splice acceptor variant G/C snv 0.700 0
dbSNP: rs587776625
rs587776625
12 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
dbSNP: rs587783652
rs587783652
2 0.925 0.080 16 57659534 stop gained C/G;T snv 2.8E-05; 4.8E-05 0.700 0
dbSNP: rs587783653
rs587783653
1 1.000 0.080 16 57659568 missense variant T/C snv 0.700 0
dbSNP: rs587783654
rs587783654
1 1.000 0.080 16 57659616 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs587783655
rs587783655
1 1.000 0.080 16 57659641 stop gained T/G snv 0.700 0
dbSNP: rs587783656
rs587783656
1 1.000 0.080 16 57661882 missense variant G/C snv 0.700 0
dbSNP: rs587783657
rs587783657
1 1.000 0.080 16 57663470 stop gained G/A snv 0.700 0
dbSNP: rs587783658
rs587783658
1 1.000 0.080 16 57651400 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs587783660
rs587783660
1 1.000 0.080 16 57653336 splice donor variant G/A snv 8.3E-06 0.700 0
dbSNP: rs797045600
rs797045600
1 1.000 0.080 16 57657420 frameshift variant C/- delins 0.700 0
dbSNP: rs797045602
rs797045602
1 1.000 0.080 16 57655918 frameshift variant -/TT delins 0.700 0
dbSNP: rs768441855
rs768441855
2 0.925 0.080 16 57655441 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2015 2015