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: rs1045644
rs1045644
1 14 30885890 missense variant C/G snv 0.56 0.51 0.010 1.000 1 2019 2019
dbSNP: rs10504361
rs10504361
1 8 62972541 intron variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs1159057
rs1159057
1 4 65271097 intergenic variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs209709
rs209709
1 1 22551320 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs28445017
rs28445017
1 6 31559979 downstream gene variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs301927
rs301927
1 3 97627774 intron variant G/A snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs41268673
rs41268673
1 2 166284599 missense variant G/C;T snv 4.0E-06; 2.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4737264
rs4737264
1 8 55198762 intron variant A/C snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs62109459
rs62109459
1 19 35756909 missense variant C/G;T snv 1.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs74401238
rs74401238
1 2 166251875 missense variant C/G;T snv 8.5E-05; 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs748095370
rs748095370
1 X 71224215 missense variant G/A snv 2.3E-05 1.9E-05 0.010 1.000 1 2010 2010
dbSNP: rs768947688
rs768947688
1 15 101178712 missense variant A/G snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs7963521
rs7963521
1 12 73435176 intergenic variant C/T snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs10555080
rs10555080
2 1.000 0.080 19 31552265 intron variant GACT/-;GACTGACT delins 0.31 0.700 1.000 1 2019 2019
dbSNP: rs11073752
rs11073752
2 1.000 0.080 15 87879820 intron variant C/T snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs11076161
rs11076161
2 1.000 0.080 16 56639236 intron variant A/G snv 0.71 0.67 0.010 1.000 1 2008 2008
dbSNP: rs11085721
rs11085721
2 1.000 0.120 19 10207300 intron variant G/C snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs138382758
rs138382758
2 1.000 0.080 1 12004835 missense variant G/A snv 2.1E-03 2.5E-03 0.010 1.000 1 2010 2010
dbSNP: rs1393404971
rs1393404971
2 1.000 0.040 7 76302833 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs200092345
rs200092345
2 8 19458576 missense variant T/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs533235539
rs533235539
2 8 19405853 missense variant A/C snv 1.5E-04 9.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs745836948
rs745836948
LXN ; GFM1
2 1.000 0.040 3 158669595 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs7349683
rs7349683
3 0.925 0.080 4 65332086 synonymous variant C/A;T snv 0.35 0.020 1.000 2 2013 2019
dbSNP: rs1060503021
rs1060503021
3 0.925 0.080 7 76304077 stop gained GC/CT mnv 0.010 1.000 1 2012 2012
dbSNP: rs11017056
rs11017056
3 1.000 0.080 10 130032376 intron variant A/C;T snv 0.21 0.700 1.000 1 2016 2016