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: rs557748
rs557748
1 1.000 0.080 6 154043167 intron variant G/A snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs774507706
rs774507706
1 1.000 0.080 6 154091093 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1122530
rs1122530
1 1.000 0.080 9 84849437 intron variant A/G snv 0.22 0.010 1.000 1 2007 2007
dbSNP: rs1187272
rs1187272
1 1.000 0.080 9 84789171 intron variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1659400
rs1659400
1 1.000 0.080 9 84711079 intron variant A/G snv 0.60 0.010 1.000 1 2007 2007
dbSNP: rs4075274
rs4075274
1 1.000 0.080 9 84981647 intron variant T/C snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs729560
rs729560
1 1.000 0.080 9 85019390 intron variant G/A snv 0.74 0.010 1.000 1 2007 2007
dbSNP: rs736744
rs736744
1 1.000 0.080 9 84899492 intron variant C/T snv 0.45 0.010 1.000 1 2007 2007
dbSNP: rs920776
rs920776
1 1.000 0.080 9 84923421 intron variant G/A snv 0.18 0.010 1.000 1 2007 2007
dbSNP: rs993315
rs993315
1 1.000 0.080 9 84672806 intron variant T/C snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs10865246
rs10865246
1 1.000 0.080 2 50443116 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1131339
rs1131339
2 0.925 0.080 9 99865020 3 prime UTR variant A/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs6198
rs6198
16 0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs4425326
rs4425326
2 0.925 0.080 4 155186084 intron variant C/T snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs4767364
rs4767364
8 0.807 0.160 12 112083644 intron variant G/A snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs4845652
rs4845652
1 1.000 0.080 1 154565729 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2835859
rs2835859
3 0.925 0.200 21 37645860 intron variant T/C snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs13286166
rs13286166
1 1.000 0.080 9 741307 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4742225
rs4742225
1 1.000 0.080 9 677938 intron variant G/T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs8034191
rs8034191
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.020 1.000 2 2013 2018
dbSNP: rs3758987
rs3758987
4 0.925 0.080 11 113904553 upstream gene variant T/C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs4938056
rs4938056
2 0.925 0.080 11 113915817 intron variant C/T snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.020 1.000 2 2011 2017