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: rs397508638
rs397508638
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.010 < 0.001 1 1992 1992
dbSNP: rs121908757
rs121908757
3 0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1078761
rs1078761
2 1.000 0.120 20 33288875 missense variant A/C;G snv 4.1E-06; 0.30 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2004 2004
dbSNP: rs721917
rs721917
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.010 1.000 1 2010 2010
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs4925
rs4925
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 < 0.001 1 2012 2012
dbSNP: rs74551128
rs74551128
8 0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05 0.020 1.000 2 1995 1995
dbSNP: rs761711628
rs761711628
1 14 94379496 missense variant C/A;T snv 1.4E-04 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs772717932
rs772717932
2 1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs1799895
rs1799895
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs80034486
rs80034486
9 0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04 0.010 < 0.001 1 1992 1992
dbSNP: rs28929474
rs28929474
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs1143639
rs1143639
2 1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1221395132
rs1221395132
1 11 612721 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs2227306
rs2227306
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs35169799
rs35169799
5 0.925 0.200 11 64263769 missense variant C/T snv 4.9E-02 4.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs74767530
rs74767530
5 0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 0.010 1.000 1 1992 1992
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs75527207
rs75527207
15 0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 0.020 1.000 2 1995 2017
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 < 0.001 1 2011 2011
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2009 2009