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: rs2076756
rs2076756
5 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.820 1.000 3 2006 2017
dbSNP: rs5743289
rs5743289
2 1.000 0.040 16 50722863 intron variant C/G;T snv 0.800 1.000 1 2008 2008
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.790 1.000 10 2002 2017
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.100 1.000 11 2002 2017
dbSNP: rs771184127
rs771184127
9 0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05 0.060 1.000 6 2004 2017
dbSNP: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.030 1.000 3 2007 2009
dbSNP: rs5743293
rs5743293
7 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.020 1.000 2 2010 2016
dbSNP: rs104895467
rs104895467
5 0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs1238539471
rs1238539471
2 1.000 0.040 16 50710637 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1256517634
rs1256517634
1 16 50711025 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1292975971
rs1292975971
3 0.925 0.040 16 50711664 synonymous variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1367967034
rs1367967034
2 1.000 0.040 16 50707959 splice region variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1369602268
rs1369602268
2 1.000 0.040 16 50707883 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs17221417
rs17221417
3 0.925 0.040 16 50705671 intron variant C/G snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs2066842
rs2066842
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.010 1.000 1 2002 2002
dbSNP: rs2066843
rs2066843
4 0.925 0.040 16 50711288 synonymous variant C/A;T snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs527892258
rs527892258
3 0.925 0.040 16 50723350 missense variant A/C;G snv 1.7E-04; 4.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs72796353
rs72796353
5 0.882 0.080 16 50712383 3 prime UTR variant A/C snv 1.3E-02 1.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs747581406
rs747581406
3 0.925 0.040 16 50711546 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs755554858
rs755554858
1 16 50711106 missense variant G/A snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs758548184
rs758548184
5 0.851 0.240 16 50699557 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs780005934
rs780005934
1 16 50710710 missense variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006