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: rs4718789
rs4718789
2 0.925 0.120 7 68579188 intergenic variant C/T snv 8.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs4978818
rs4978818
2 0.925 0.120 9 109509949 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1010159
rs1010159
3 0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55 0.010 1.000 1 2015 2015
dbSNP: rs10119
rs10119
5 0.925 0.080 19 44903416 3 prime UTR variant G/A snv 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs10407447
rs10407447
1 1.000 0.040 19 40363275 intron variant A/G snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs104894103
rs104894103
6 0.807 0.280 9 32974495 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs111943087
rs111943087
2 0.925 0.080 5 150059725 missense variant G/A snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs11218304
rs11218304
2 0.925 0.080 11 121478402 intron variant A/G snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs1130399
rs1130399
1 1.000 0.040 6 32661978 missense variant G/A;T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs11556510
rs11556510
1 1.000 0.040 19 44891562 missense variant T/G snv 9.8E-03 1.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs11637611
rs11637611
4 0.851 0.160 15 72259371 intron variant C/T snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs11667768
rs11667768
1 1.000 0.040 19 40348525 5 prime UTR variant C/T snv 6.3E-02 0.11 0.010 1.000 1 2018 2018
dbSNP: rs11767557
rs11767557
4 0.882 0.080 7 143412046 intron variant T/C snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1187120
rs1187120
3 0.925 0.040 6 34182850 intergenic variant T/C snv 0.99 0.010 1.000 1 2015 2015
dbSNP: rs11887120
rs11887120
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs12053868
rs12053868
2 0.925 0.080 3 190582215 intron variant A/G snv 8.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1207568
rs1207568
KL
3 0.925 0.120 13 33016046 upstream gene variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs12344615
rs12344615
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1256049
rs1256049
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs12752888
rs12752888
4 0.851 0.160 1 54527266 downstream gene variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1334496
rs1334496
1 1.000 0.040 X 137178554 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1451603364
rs1451603364
2 0.925 0.120 11 27658411 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs15009
rs15009
2 0.925 0.080 5 58454523 3 prime UTR variant C/G snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs157581
rs157581
3 0.925 0.080 19 44892457 synonymous variant T/C snv 0.25 0.29 0.010 1.000 1 2014 2014
dbSNP: rs16947151
rs16947151
4 0.882 0.080 17 49213276 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019