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: 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: 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: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs78655421
rs78655421
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.040 1.000 4 2000 2019
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: rs113857788
rs113857788
5 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 0.010 1.000 1 2013 2013
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: rs121909005
rs121909005
5 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1800076
rs1800076
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs397508638
rs397508638
9 0.807 0.160 7 117652871 frameshift variant A/-;AA delins 0.010 < 0.001 1 1992 1992
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: rs75541969
rs75541969
9 0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs77932196
rs77932196
8 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.010 1.000 1 1995 1995
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: 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: rs193922500
rs193922500
5 0.851 0.160 7 117548798 missense variant T/C snv 2.0E-04 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs213950
rs213950
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2000 2000
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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2018 2018
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: rs2227307
rs2227307
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.010 1.000 1 2016 2016
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: 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: 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