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: rs121908389
rs121908389
2 0.925 0.120 16 50791689 missense variant A/G snv 0.800 1.000 3 2003 2006
dbSNP: rs121908390
rs121908390
8 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs121908388
rs121908388
4 0.925 0.120 16 50792627 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs12268840
rs12268840
6 0.827 0.200 10 129527035 intron variant C/T snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs12269324
rs12269324
1 1.000 0.120 10 129468206 intron variant T/A snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs139429793
rs139429793
4 0.925 0.120 7 55155928 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1462159134
rs1462159134
1 1.000 0.120 17 7673764 frameshift variant CC/T delins 0.010 1.000 1 2014 2014
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs2274223
rs2274223
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 1.000 1 2013 2013
dbSNP: rs2279744
rs2279744
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2305764
rs2305764
10 0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 0.010 1.000 1 2012 2012
dbSNP: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs2308327
rs2308327
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2008 2008
dbSNP: rs2701108
rs2701108
2 0.925 0.160 12 114236456 downstream gene variant T/C snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs3072
rs3072
2 0.925 0.160 2 20678646 3 prime UTR variant T/C snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs377767360
rs377767360
4 0.882 0.240 18 51076662 stop gained C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs3784262
rs3784262
6 0.882 0.160 15 57960908 intron variant T/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs5030625
rs5030625
3 0.882 0.160 16 68736944 upstream gene variant A/- del 0.80 0.010 1.000 1 2011 2011
dbSNP: rs536105592
rs536105592
2 0.925 0.120 8 81529460 missense variant G/A snv 1.2E-04 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2014 2014