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: rs10009145
rs10009145
1 1.000 0.080 4 99126778 intron variant G/A snv 0.39 0.34 0.010 1.000 1 2012 2012
dbSNP: rs1799913
rs1799913
5 0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33 0.010 1.000 1 2019 2019
dbSNP: rs3027172
rs3027172
2 0.925 0.080 17 8152405 missense variant A/G snv 0.38 0.17 0.020 1.000 2 2011 2015
dbSNP: rs1443547
rs1443547
1 1.000 0.080 11 20601429 missense variant G/A snv 0.37 0.38 0.010 1.000 1 2009 2009
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2007 2007
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.050 1.000 5 2012 2018
dbSNP: rs1693482
rs1693482
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 1.000 1 2008 2008
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.020 1.000 2 2011 2013
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2013 2013
dbSNP: rs1806201
rs1806201
8 0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24 0.010 1.000 1 2005 2005
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.080 1.000 8 1998 2019
dbSNP: rs595961
rs595961
6 0.807 0.160 1 35902179 intron variant A/G snv 0.30 0.37 0.010 1.000 1 2015 2015
dbSNP: rs2241894
rs2241894
3 1.000 0.080 4 99344976 synonymous variant T/A;C snv 4.0E-06; 0.30 0.700 1.000 1 2014 2014
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2012 2012
dbSNP: rs6691840
rs6691840
5 0.827 0.120 1 36859876 missense variant A/C;G snv 0.27; 9.2E-05 0.020 0.500 2 2006 2013
dbSNP: rs16969968
rs16969968
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2013 2013
dbSNP: rs7165988
rs7165988
1 1.000 0.080 15 38696614 non coding transcript exon variant C/G;T snv 0.26; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs7171233
rs7171233
1 1.000 0.080 15 38696559 intron variant T/A snv 0.26 0.26 0.700 1.000 1 2013 2013
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2018 2018
dbSNP: rs752949
rs752949
3 0.925 0.160 11 35306201 synonymous variant C/T snv 0.23 0.22 0.010 1.000 1 2004 2004
dbSNP: rs878081
rs878081
3 0.882 0.200 21 44288394 synonymous variant C/T snv 0.21 0.19 0.010 1.000 1 2018 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.900 10 2005 2018
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.100 0.893 28 1998 2019
dbSNP: rs29230
rs29230
6 0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18 0.010 < 0.001 1 2006 2006