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: rs1057519982
rs1057519982
1 1.000 0.080 17 7674239 missense variant A/C;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs1065205
rs1065205
2 1.000 0.080 18 63655761 missense variant T/C;G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1065403
rs1065403
1 1.000 0.080 4 82629966 3 prime UTR variant T/C snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs10789859
rs10789859
1 1.000 0.080 11 112089809 intron variant T/C snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs1081432
rs1081432
1 1.000 0.080 2 6708412 intergenic variant T/C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs10817938
rs10817938
5 0.882 0.080 9 97700127 non coding transcript exon variant T/C snv 3.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs10836347
rs10836347
3 1.000 0.080 11 35231586 3 prime UTR variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs111904020
rs111904020
1 1.000 0.080 17 42314141 3 prime UTR variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs112395617
rs112395617
1 1.000 0.080 1 64833868 3 prime UTR variant -/TTAA;TTAATTAA delins 0.010 1.000 1 2018 2018
dbSNP: rs113155945
rs113155945
1 1.000 0.080 2 237378714 missense variant C/T snv 2.6E-02 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs1135519
rs1135519
1 1.000 0.080 18 58449913 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11481
rs11481
1 1.000 0.080 11 68052868 3 prime UTR variant T/A snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs11489585
rs11489585
1 1.000 0.080 7 77685535 intron variant A/G snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs11539196
rs11539196
1 1.000 0.080 20 56370541 missense variant C/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs11556090
rs11556090
1 1.000 0.080 15 67194045 3 prime UTR variant A/G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs11564475
rs11564475
3 0.882 0.080 3 41238542 intron variant A/G snv 3.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11632348
rs11632348
1 1.000 0.080 15 90104814 intron variant C/A snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs11685758
rs11685758
1 1.000 0.080 2 186668641 non coding transcript exon variant C/T snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs1177928762
rs1177928762
1 1.000 0.080 12 119674440 missense variant G/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs11871275
rs11871275
1 1.000 0.080 17 37409002 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11950384
rs11950384
1 1.000 0.080 5 151663652 intron variant G/A snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1200055659
rs1200055659
4 0.851 0.080 1 153614902 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs12108497
rs12108497
6 0.851 0.080 4 184650403 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121913675
rs121913675
MET
2 0.925 0.080 7 116778953 missense variant C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs121913676
rs121913676
MET
3 0.925 0.080 7 116783421 missense variant G/A;C;T snv 0.700 1.000 1 1999 1999