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: rs1320254777
rs1320254777
1 1.000 0.040 14 54902565 missense variant G/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs34995376
rs34995376
7 0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs34015634
rs34015634
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs755509970
rs755509970
1 1.000 0.040 7 2244708 missense variant T/C snv 2.1E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs374880482
rs374880482
CHM
2 0.925 0.040 X 85963748 missense variant T/C snv 3.3E-05 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs34410987
rs34410987
3 0.882 0.040 12 40283897 missense variant C/T snv 7.4E-04 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.100 0.968 31 2005 2019
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.090 1.000 9 2007 2019
dbSNP: rs41549716
rs41549716
4 0.882 0.200 15 89321842 missense variant T/C snv 6.6E-03 7.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs142444896
rs142444896
6 0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03 0.020 1.000 2 2015 2016
dbSNP: rs4866
rs4866
5 0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs1801334
rs1801334
4 0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02 0.010 1.000 1 2005 2005
dbSNP: rs6783485
rs6783485
2 0.925 0.040 3 59442071 intron variant G/A snv 5.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs1801474
rs1801474
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 1999 1999
dbSNP: rs1879553
rs1879553
2 0.925 0.040 3 118896616 downstream gene variant A/G snv 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs3827336
rs3827336
1 1.000 0.040 22 32625012 intron variant C/G snv 9.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs11186
rs11186
2 0.925 0.040 2 189032668 3 prime UTR variant A/C snv 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1559085
rs1559085
2 0.925 0.040 5 96742998 intron variant A/G snv 9.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs66737902
rs66737902
2 0.925 0.040 12 40367861 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs7669
rs7669
2 0.925 0.040 13 27435714 missense variant G/A;C snv 0.15 0.15 0.010 1.000 1 2007 2007
dbSNP: rs5030732
rs5030732
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.060 0.833 6 2001 2011
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2010 2010
dbSNP: rs9323124
rs9323124
2 0.925 0.040 14 46996974 non coding transcript exon variant T/A snv 0.23 0.010 1.000 1 2016 2016