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: rs33388
rs33388
12 0.776 0.360 5 143317730 intron variant A/T snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs370838138
rs370838138
1 1.000 0.040 5 25081736 intergenic variant G/C snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs4869317
rs4869317
2 1.000 0.040 5 96956300 intron variant T/A snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs929626
rs929626
2 0.925 0.120 5 158883623 intron variant A/G snv 0.40 0.710 1.000 1 2017 2017
dbSNP: rs2295193
rs2295193
1 1.000 0.040 6 152131959 intron variant G/A;C snv 0.030 0.667 3 2010 2014
dbSNP: rs726281
rs726281
1 1.000 0.040 6 151981443 intron variant G/A snv 0.56 0.020 1.000 2 2010 2014
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2009 2009
dbSNP: rs200960801
rs200960801
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs3798577
rs3798577
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs75063949
rs75063949
2 0.925 0.040 6 25590813 intron variant C/G snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs1285957
rs1285957
1 1.000 0.040 7 141889478 downstream gene variant T/C snv 0.86 0.700 1.000 1 2013 2013
dbSNP: rs1356639869
rs1356639869
2 1.000 0.040 7 24289527 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs145241704
rs145241704
1 1.000 0.040 7 141805287 upstream gene variant T/G snv 7.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs778902328
rs778902328
1 1.000 0.040 7 24291679 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs10096097
rs10096097
1 1.000 0.040 8 30169582 intron variant G/A snv 0.62 0.010 1.000 1 2011 2011
dbSNP: rs11783752
rs11783752
2 0.925 0.040 8 20192013 intergenic variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs923768
rs923768
1 1.000 0.040 8 19673452 intron variant T/C snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs2008387
rs2008387
1 1.000 0.040 10 129650500 intron variant G/A snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.080 0.875 8 2004 2016
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.080 0.875 8 2004 2016
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2016 2016
dbSNP: rs6589488
rs6589488
1 1.000 0.040 11 115226236 intron variant A/T snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs6590474
rs6590474
1 1.000 0.040 11 99982441 intron variant A/C snv 0.71 0.010 1.000 1 2009 2009