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: rs1042169
rs1042169
1 1.000 0.080 6 33080909 missense variant G/A;T snv 0.31; 1.4E-02 0.710 1.000 3 2013 2019
dbSNP: rs2301220
rs2301220
1 1.000 0.080 6 33070989 intron variant C/A;T snv 0.700 1.000 3 2009 2013
dbSNP: rs3135021
rs3135021
2 0.925 0.080 6 33077781 intron variant G/A snv 0.32 0.710 0.667 3 2009 2016
dbSNP: rs9380343
rs9380343
1 1.000 0.080 6 33111389 upstream gene variant C/T snv 4.8E-02 0.710 1.000 3 2009 2019
dbSNP: rs10484569
rs10484569
1 1.000 0.080 6 33091175 downstream gene variant G/A snv 5.9E-02 0.700 1.000 2 2009 2011
dbSNP: rs1431399
rs1431399
1 1.000 0.080 6 33073257 intron variant A/G;T snv 0.700 1.000 2 2011 2013
dbSNP: rs1442820036
rs1442820036
1 1.000 0.080 21 33246788 missense variant G/A snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs553665868
rs553665868
1 1.000 0.080 6 33080917 missense variant A/G snv 0.700 1.000 2 2013 2013
dbSNP: rs59391722
rs59391722
1 1.000 0.080 22 21566528 intron variant G/C snv 0.18 0.710 1.000 2 2013 2019
dbSNP: rs9277471
rs9277471
1 1.000 0.080 6 33085905 missense variant G/A;C snv 0.32; 4.1E-06 0.710 1.000 2 2013 2016
dbSNP: rs9469341
rs9469341
1 1.000 0.080 6 33068100 3 prime UTR variant A/C;G snv 0.700 1.000 2 2011 2013
dbSNP: rs10214910
rs10214910
1 1.000 0.080 6 33069898 intron variant C/A snv 0.23 0.32 0.700 1.000 1 2013 2013
dbSNP: rs10243492
rs10243492
1 1.000 0.080 7 32780825 intergenic variant A/G snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs1042190
rs1042190
1 1.000 0.080 6 33069222 missense variant T/C snv 0.24 0.28 0.700 1.000 1 2013 2013
dbSNP: rs10485138
rs10485138
1 1.000 0.080 6 100690714 intron variant C/T snv 2.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs10912564
rs10912564
1 1.000 0.080 1 173201479 intron variant C/T snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs11089620
rs11089620
1 1.000 0.080 22 21568167 non coding transcript exon variant C/G snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs112120857
rs112120857
1 1.000 0.080 22 39018377 missense variant G/C;T snv 5.2E-05; 5.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs1126542
rs1126542
1 1.000 0.080 6 33069647 missense variant T/A;C;G snv 0.24 0.28 0.700 1.000 1 2013 2013
dbSNP: rs1126769
rs1126769
1 1.000 0.080 6 33068658 missense variant T/G snv 0.24 0.29 0.700 1.000 1 2013 2013
dbSNP: rs11355458
rs11355458
1 1.000 0.080 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins 0.010 1.000 1 2010 2010
dbSNP: rs1140763
rs1140763
1 1.000 0.080 9 125235313 3 prime UTR variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs11466004
rs11466004
1 1.000 0.080 8 74029040 missense variant C/G;T snv 1.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs11568695
rs11568695
1 1.000 0.080 13 95044286 synonymous variant C/T snv 1.2E-02 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs11638027
rs11638027
1 1.000 0.080 15 90302268 intron variant G/T snv 9.9E-02 0.700 1.000 1 2013 2013