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: rs1408272
rs1408272
4 6 25842723 intron variant T/G snv 4.0E-02 0.800 1.000 4 2009 2017
dbSNP: rs218237
rs218237
6 4 54528005 intergenic variant C/T snv 0.18 0.800 1.000 4 2010 2019
dbSNP: rs1434282
rs1434282
6 1 199041592 non coding transcript exon variant C/T snv 0.76 0.700 1.000 3 2016 2019
dbSNP: rs2413450
rs2413450
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 3 2009 2017
dbSNP: rs628751
rs628751
3 6 139517282 intron variant C/A snv 0.41 0.800 1.000 3 2009 2019
dbSNP: rs6592965
rs6592965
4 7 50360284 intron variant G/A snv 0.47 0.700 1.000 3 2016 2019
dbSNP: rs7776054
rs7776054
13 6 135097778 intron variant A/G snv 0.24 0.800 1.000 3 2009 2018
dbSNP: rs9349205
rs9349205
7 6 41957421 intron variant G/A;C snv 0.800 1.000 3 2009 2018
dbSNP: rs10160596
rs10160596
3 11 65583893 non coding transcript exon variant G/A snv 0.20 0.700 1.000 2 2016 2019
dbSNP: rs10758656
rs10758656
7 9 4852599 intron variant A/G snv 0.19 0.700 1.000 2 2017 2019
dbSNP: rs10758658
rs10758658
4 9 4856877 intron variant G/A snv 0.15 0.800 1.000 2 2009 2017
dbSNP: rs10849023
rs10849023
4 12 4223312 intergenic variant C/T snv 0.22 0.700 1.000 2 2012 2017
dbSNP: rs10923397
rs10923397
2 1 117708521 regulatory region variant C/T snv 0.14 0.700 1.000 2 2016 2019
dbSNP: rs11085824
rs11085824
4 19 12890733 upstream gene variant A/G snv 0.31 0.800 1.000 2 2009 2017
dbSNP: rs112233623
rs112233623
5 6 41957260 intron variant C/T snv 7.0E-03 0.700 1.000 2 2016 2019
dbSNP: rs1122794
rs1122794
2 16 259156 intron variant C/A snv 0.19 0.800 1.000 2 2009 2017
dbSNP: rs1134634
rs1134634
2 4 15601446 3 prime UTR variant G/C;T snv 0.58; 9.4E-06 0.700 1.000 2 2016 2019
dbSNP: rs113809617
rs113809617
5 9 137205865 missense variant C/G snv 0.13 0.12 0.700 1.000 2 2016 2019
dbSNP: rs11627485
rs11627485
5 14 65020976 intron variant T/C snv 0.36 0.700 1.000 2 2016 2019
dbSNP: rs116908763
rs116908763
1 15 44427813 5 prime UTR variant C/T snv 2.3E-02 0.700 1.000 2 2016 2019
dbSNP: rs117565673
rs117565673
1 16 88977046 5 prime UTR variant T/C snv 3.7E-02 0.700 1.000 2 2016 2019
dbSNP: rs117747069
rs117747069
4 16 120077 intron variant G/C snv 2.5E-02 0.700 1.000 2 2016 2016
dbSNP: rs11915082
rs11915082
2 3 196082268 upstream gene variant G/A snv 0.31 0.800 1.000 2 2009 2017
dbSNP: rs12127588
rs12127588
2 1 198626376 intergenic variant G/A;C;T snv 0.700 1.000 2 2010 2017
dbSNP: rs12232375
rs12232375
2 16 88500003 intron variant G/A;C;T snv 0.700 1.000 2 2016 2019