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: rs10864315
rs10864315
3 1 7790021 intron variant C/T snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1481892
rs1481892
3 11 13280374 intron variant G/C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs35275025
rs35275025
3 1.000 0.080 17 8141219 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3805148
rs3805148
3 4 55440643 intron variant A/C snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs11600996
rs11600996
4 1.000 0.040 11 13374619 intron variant T/C snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1229030855
rs1229030855
4 0.925 0.080 12 56428321 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1982350
rs1982350
4 11 13328584 intron variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs2640909
rs2640909
4 1 7830057 missense variant T/C snv 0.14 0.23 0.010 1.000 1 2016 2016
dbSNP: rs9315202
rs9315202
4 0.925 0.080 13 33067879 downstream gene variant C/T snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs9563121
rs9563121
KL
4 0.925 0.080 13 33050369 intron variant C/T snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs777323132
rs777323132
4 0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 0.700 0
dbSNP: rs1057521721
rs1057521721
5 0.851 0.200 X 123428020 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs4719714
rs4719714
5 1.000 0.080 7 22721094 intron variant A/T snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs1057521223
rs1057521223
5 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
dbSNP: rs10766075
rs10766075
6 0.925 0.080 11 13297040 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs11022778
rs11022778
6 0.925 0.080 11 13369313 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs156243
rs156243
6 0.925 0.080 6 104416939 intergenic variant G/A snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs2291739
rs2291739
6 0.925 0.080 12 56420869 missense variant G/A;C snv 0.49; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3789327
rs3789327
6 0.925 0.080 11 13363769 intron variant A/G snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs1064793575
rs1064793575
6 0.925 0.040 X 136016706 frameshift variant GT/- delins 0.700 0
dbSNP: rs1555358382
rs1555358382
6 14 54844115 stop gained G/A snv 0.700 0
dbSNP: rs397507562
rs397507562
6 0.851 0.240 12 101757311 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs773685207
rs773685207
6 0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 0.700 0
dbSNP: rs11824092
rs11824092
7 0.925 0.080 11 13324747 intron variant T/C snv 0.62 0.020 1.000 2 2014 2016
dbSNP: rs1380822792
rs1380822792
7 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0