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: rs1056663
rs1056663
3 1.000 7 47965365 synonymous variant C/T snv 0.49 0.46 0.010 1.000 1 2012 2012
dbSNP: rs1057519980
rs1057519980
1 1.000 17 7675084 missense variant G/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1159077388
rs1159077388
1 1.000 16 82164193 missense variant A/T snv 4.3E-06 0.010 1.000 1 2000 2000
dbSNP: rs1213743797
rs1213743797
1 1.000 7 41964929 missense variant C/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1248634
rs1248634
1 1.000 10 77819464 splice region variant G/A snv 0.29 0.24 0.010 1.000 1 2009 2009
dbSNP: rs150812083
rs150812083
3 0.925 1 7809893 missense variant C/G snv 5.6E-03 5.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs200786329
rs200786329
3 0.925 13 110201467 missense variant G/A snv 5.2E-05 1.7E-04 0.010 1.000 1 2012 2012
dbSNP: rs2228292
rs2228292
1 1.000 3 184352800 missense variant C/G snv 1.5E-02 1.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs3735273
rs3735273
1 1.000 7 50529166 intron variant C/T snv 0.25 0.27 0.010 1.000 1 2013 2013
dbSNP: rs3837091
rs3837091
DDC
2 1.000 7 50561043 5 prime UTR variant TCTC/-;TC delins 0.23 0.010 1.000 1 2013 2013
dbSNP: rs397514624
rs397514624
3 0.925 13 110187254 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs587777741
rs587777741
2 0.925 7 36411062 missense variant C/T snv 1.7E-05 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs753721001
rs753721001
1 1.000 6 122399830 missense variant G/A;C snv 4.1E-06; 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs764328696
rs764328696
3 1.000 7 35248696 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs770029606
rs770029606
1 1.000 16 46674629 missense variant G/A snv 7.7E-05 9.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs773941026
rs773941026
1 1.000 13 102401633 missense variant A/G;T snv 2.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs778581081
rs778581081
2 0.925 17 3937577 missense variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs782175860
rs782175860
2 0.925 19 41975776 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs80356740
rs80356740
2 1.000 1 11022556 missense variant A/G snv 1.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs982730623
rs982730623
1 1.000 3 32146681 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs28939688
rs28939688
7 0.807 0.040 10 13109270 missense variant G/A snv 0.020 1.000 2 2003 2013
dbSNP: rs763222239
rs763222239
5 0.827 0.040 3 184322862 missense variant G/A snv 4.0E-06 0.020 1.000 2 2013 2015
dbSNP: rs1048103951
rs1048103951
2 0.925 0.040 12 104321282 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs104894613
rs104894613
NOG
3 0.882 0.040 17 56594609 stop gained T/A snv 0.010 1.000 1 2001 2001
dbSNP: rs1060499619
rs1060499619
4 0.851 0.040 21 32681590 missense variant C/G snv 0.010 1.000 1 2016 2016