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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.688 16 2005 2019
dbSNP: rs2301365
rs2301365
1 16 11281429 intron variant G/T snv 0.21 0.030 1.000 3 2015 2018
dbSNP: rs553509
rs553509
3 0.925 0.040 X 104013293 missense variant T/C snv 0.38 0.030 1.000 3 2012 2018
dbSNP: rs10129954
rs10129954
2 1.000 0.040 14 72683993 intron variant C/T snv 0.49 0.020 1.000 2 2018 2018
dbSNP: rs10842262
rs10842262
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.020 1.000 2 2014 2019
dbSNP: rs184752888
rs184752888
4 0.882 0.120 6 32977847 missense variant G/A snv 0.020 0.500 2 2011 2015
dbSNP: rs2477686
rs2477686
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.020 0.500 2 2014 2019
dbSNP: rs1042389
rs1042389
1 19 41018248 3 prime UTR variant T/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs10459953
rs10459953
3 0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1050482
rs1050482
1 2 112663757 3 prime UTR variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs1059060
rs1059060
3 0.925 0.040 7 5977709 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1061581
rs1061581
6 0.827 0.200 6 31816809 synonymous variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10841496
rs10841496
1 12 20368720 intron variant C/A snv 0.43 0.800 1.000 1 2010 2010
dbSNP: rs10966811
rs10966811
2 1.000 0.040 9 25233486 intergenic variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
dbSNP: rs12097821
rs12097821
4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12348
rs12348
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs1259503
rs1259503
1 10 75232686 downstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12870438
rs12870438
3 0.925 0.040 13 42906069 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1377547190
rs1377547190
1 11 36573327 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1391383394
rs1391383394
1 20 32791692 missense variant T/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1399645
rs1399645
1 2 139390262 intergenic variant C/T snv 9.0E-02 0.800 1.000 1 2010 2010
dbSNP: rs140685149
rs140685149
2 1.000 0.080 20 145670 frameshift variant CC/-;C;CCC delins 0.010 1.000 1 2015 2015
dbSNP: rs144944885
rs144944885
2 1.000 0.040 22 50776482 intron variant G/- delins 0.010 1.000 1 2017 2017