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: rs587780194
rs587780194
1 1.000 0.080 22 28699866 missense variant T/A;C snv 1.6E-05 0.700 1.000 5 2008 2015
dbSNP: rs750984976
rs750984976
1 1.000 0.080 22 28699879 missense variant T/C;G snv 4.0E-06 0.700 1.000 5 2008 2015
dbSNP: rs77130927
rs77130927
3 0.882 0.120 22 28725031 missense variant G/A snv 1.0E-03 5.5E-04 0.700 1.000 5 2008 2015
dbSNP: rs121908698
rs121908698
7 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 0
dbSNP: rs121908701
rs121908701
1 1.000 0.080 22 28725027 missense variant C/T snv 1.4E-04 6.3E-05 0.700 0
dbSNP: rs121908702
rs121908702
4 0.882 0.120 22 28711986 stop gained C/A;G;T snv 8.0E-06; 4.0E-06; 7.6E-05 0.700 0
dbSNP: rs137853009
rs137853009
2 0.925 0.080 22 28725030 missense variant C/A;T snv 4.0E-06; 6.0E-05 0.700 0
dbSNP: rs137853010
rs137853010
3 0.882 0.120 22 28725028 missense variant G/A;C snv 1.1E-04 0.700 0
dbSNP: rs137853011
rs137853011
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
dbSNP: rs141568342
rs141568342
2 1.000 0.080 22 28734532 missense variant C/T snv 1.6E-04 1.5E-04 0.700 0
dbSNP: rs143611747
rs143611747
1 1.000 0.080 22 28699893 missense variant C/A;G;T snv 4.0E-06; 8.0E-06; 4.0E-06; 4.8E-05 0.700 0
dbSNP: rs200917541
rs200917541
5 0.851 0.200 22 28725270 stop gained G/A;T snv 0.700 0
dbSNP: rs540635787
rs540635787
4 0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs560596101
rs560596101
5 0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs587780189
rs587780189
1 1.000 0.080 22 28711950 missense variant T/A snv 8.0E-06 8.4E-05 0.700 0
dbSNP: rs587781667
rs587781667
1 1.000 0.080 22 28725253 missense variant C/G;T snv 8.0E-06; 1.6E-05 0.700 0
dbSNP: rs587781705
rs587781705
5 0.851 0.200 22 28734506 stop gained A/C snv 0.700 0
dbSNP: rs587782401
rs587782401
5 0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05 0.700 0
dbSNP: rs72552322
rs72552322
7 0.925 0.120 22 28725070 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs730881701
rs730881701
6 0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2004 2008
dbSNP: rs17886163
rs17886163
2 0.925 0.080 22 28695159 missense variant A/C snv 1.4E-03 5.4E-03 0.010 1.000 1 2016 2016
dbSNP: rs200050883
rs200050883
4 0.851 0.120 22 28695190 missense variant C/A;G;T snv 3.9E-04 3.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs587780170
rs587780170
5 0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06 0.010 1.000 1 2016 2016