Source: ALL
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: rs545854
rs545854
4 0.882 0.160 8 10002570 intron variant G/C snv 0.85 0.700 1.000 1 2000 2000
dbSNP: rs2453626
rs2453626
1 1.000 0.080 8 100125669 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1799768
rs1799768
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2019 2019
dbSNP: rs532966772
rs532966772
1 1.000 0.080 7 101132023 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2038366
rs2038366
1 1.000 0.080 1 101235342 upstream gene variant G/T snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs59317557
rs59317557
1 1.000 0.080 1 101236367 non coding transcript exon variant C/G snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs3753194
rs3753194
1 1.000 0.080 1 101237269 intron variant A/G snv 6.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs28665122
rs28665122
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs13022699
rs13022699
1 1.000 0.080 2 101671373 intergenic variant C/T snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs12468899
rs12468899
1 1.000 0.080 2 101809678 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1709393
rs1709393
2 1.000 0.080 3 101980310 intron variant C/T snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs13427957
rs13427957
1 1.000 0.080 2 102072571 intron variant C/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs11225138
rs11225138
2 0.925 0.200 11 102123167 intron variant G/C snv 6.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs949963
rs949963
3 0.925 0.160 2 102153326 intron variant C/T snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs871657
rs871657
2 1.000 0.080 2 102154881 intron variant C/T snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs74180212
rs74180212
2 0.925 0.080 2 102181785 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs10189629
rs10189629
2 1.000 0.080 2 102263004 regulatory region variant C/A snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs78545931
rs78545931
2 0.925 0.080 2 102265892 intergenic variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11692065
rs11692065
2 1.000 0.080 2 102267515 intergenic variant C/T snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs11674302
rs11674302
2 1.000 0.080 2 102270668 intergenic variant T/C snv 0.16 0.700 1.000 1 2011 2011
dbSNP: rs60227565
rs60227565
2 0.925 0.080 2 102275879 intergenic variant G/A;T snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs202011557
rs202011557
1 1.000 0.080 2 102297182 intergenic variant -/CAA delins 0.700 1.000 1 2016 2016
dbSNP: rs10515922
rs10515922
1 1.000 0.080 2 102298194 regulatory region variant A/G snv 6.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12470864
rs12470864
4 0.925 0.080 2 102309902 upstream gene variant G/A snv 0.30 0.700 1.000 1 2019 2019