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: rs1000283
rs1000283
2 0.925 0.080 1 209721316 intron variant G/A snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs10011540
rs10011540
1 1.000 0.080 4 140568842 5 prime UTR variant T/G snv 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs10012946
rs10012946
1 1.000 0.080 4 6291623 intron variant T/C snv 0.63 0.010 1.000 1 2008 2008
dbSNP: rs1002630
rs1002630
2 0.925 0.160 7 29388454 intron variant G/A snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1004467
rs1004467
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.010 1.000 1 2018 2018
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 < 0.001 1 2018 2018
dbSNP: rs10212638
rs10212638
1 1.000 0.080 4 23864492 intron variant A/G snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs1022113606
rs1022113606
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1024610
rs1024610
3 0.882 0.200 17 34253212 upstream gene variant T/A snv 0.85 0.010 1.000 1 2015 2015
dbSNP: rs10247649
rs10247649
2 0.925 0.080 7 95586935 non coding transcript exon variant A/G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs10255208
rs10255208
2 0.925 0.160 7 36819038 non coding transcript exon variant A/G snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs10305420
rs10305420
2 0.925 0.160 6 39048860 missense variant C/T snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs10305492
rs10305492
2 1.000 0.080 6 39079018 missense variant G/A snv 1.0E-02 1.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs1031647179
rs1031647179
1 1.000 0.080 20 44424278 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1033182
rs1033182
3 0.882 0.160 6 151873899 intron variant G/A snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs10399931
rs10399931
6 0.807 0.320 1 203186952 upstream gene variant T/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1044250
rs1044250
12 0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29 0.010 1.000 1 2016 2016
dbSNP: rs1045895
rs1045895
2 0.925 0.080 1 65432298 3 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10461016
rs10461016
1 1.000 0.080 3 45767209 intron variant T/C snv 7.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs10466210
rs10466210
1 1.000 0.080 10 119210869 intron variant A/G snv 0.94 0.010 1.000 1 2018 2018
dbSNP: rs1047711865
rs1047711865
1 1.000 0.080 18 76849628 missense variant A/G;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 1996 1996
dbSNP: rs1047883
rs1047883
1 1.000 0.080 2 210591913 missense variant A/G;T snv 0.57; 3.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs10483032
rs10483032
1 1.000 0.080 21 36140267 intron variant A/G snv 0.90 0.010 1.000 1 2012 2012