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: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2019 2019
dbSNP: rs7849782
rs7849782
3 0.925 0.160 9 101664982 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs9485729
rs9485729
1 1.000 0.120 6 102688156 intergenic variant C/T snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs549908
rs549908
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.010 1.000 1 2009 2009
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 < 0.001 1 2019 2019
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2019 2019
dbSNP: rs3762491
rs3762491
1 1.000 0.120 2 113731675 intron variant G/A snv 1.9E-02 4.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs11793049
rs11793049
2 0.925 0.120 9 114011589 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17136627
rs17136627
2 0.925 0.120 5 114463289 intron variant C/T snv 7.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs2244234
rs2244234
1 1.000 0.120 8 11478958 upstream gene variant T/G snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs2409780
rs2409780
1 1.000 0.120 8 11480078 intron variant T/C snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs1564267
rs1564267
2 0.925 0.160 8 11480378 non coding transcript exon variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs2618444
rs2618444
2 0.925 0.160 8 11480861 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs62489069
rs62489069
1 1.000 0.120 8 11480874 intron variant A/G snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs35393613
rs35393613
1 1.000 0.120 8 11480957 intron variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1531577
rs1531577
1 1.000 0.120 8 11481052 non coding transcript exon variant C/T snv 0.71 0.700 1.000 1 2012 2012
dbSNP: rs13256690
rs13256690
1 1.000 0.120 8 11481059 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2061831
rs2061831
2 0.925 0.160 8 11482373 upstream gene variant T/C snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs2736332
rs2736332
2 0.925 0.160 8 11482456 upstream gene variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs7812879
rs7812879
6 0.807 0.320 8 11482672 upstream gene variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2254891
rs2254891
1 1.000 0.120 8 11483620 upstream gene variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2736335
rs2736335
1 1.000 0.120 8 11483978 upstream gene variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2736336
rs2736336
2 0.925 0.160 8 11484361 upstream gene variant G/A;C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2736337
rs2736337
5 0.827 0.240 8 11484371 upstream gene variant T/C snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs2736338
rs2736338
1 1.000 0.120 8 11484374 upstream gene variant A/C;T snv 0.700 1.000 1 2012 2012