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: rs10407447
rs10407447
1 1.000 0.040 19 40363275 intron variant A/G snv 0.20 0.010 1.000 1 2016 2016
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: 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: rs1334496
rs1334496
1 1.000 0.040 X 137178554 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs227959
rs227959
1 1.000 0.040 17 3406923 upstream gene variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs2534672
rs2534672
1 1.000 0.040 6 31497781 intron variant G/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs4829605
rs4829605
1 1.000 0.040 X 137182822 intergenic variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs640476
rs640476
1 1.000 0.040 5 161277998 intergenic variant T/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs774321998
rs774321998
1 1.000 0.040 1 11790683 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs8052688
rs8052688
1 1.000 0.040 16 1322182 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs8063
rs8063
1 1.000 0.040 16 1324817 3 prime UTR variant A/C;G snv 4.0E-06; 4.0E-06; 0.71 0.010 1.000 1 2009 2009
dbSNP: rs9527025
rs9527025
KL
1 1.000 0.040 13 33054056 missense variant G/C;T snv 0.14 0.010 1.000 1 2017 2017
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: 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: 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: rs35445101
rs35445101
2 0.925 0.080 6 32579102 missense variant A/G snv 4.2E-04 2.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs3756577
rs3756577
2 0.925 0.080 5 150249081 intron variant C/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs3822606
rs3822606
2 0.925 0.080 5 150261592 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
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: rs4837766
rs4837766
2 0.925 0.080 9 120402006 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
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: rs528528
rs528528
2 0.925 0.080 7 103748638 intron variant T/A;C snv 0.010 1.000 1 2016 2016