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: rs7999279
rs7999279
1 1.000 0.200 13 47376590 intergenic variant A/C snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs9271573
rs9271573
1 1.000 0.200 6 32622724 TF binding site variant A/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs9277554
rs9277554
7 0.790 0.520 6 33087761 3 prime UTR variant C/T snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs9938751
rs9938751
1 1.000 0.200 16 12908502 missense variant T/A;C snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.020 1.000 2 2017 2017
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.020 1.000 2 2011 2018
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs10489629
rs10489629
5 0.827 0.240 1 67222666 intron variant T/C snv 0.48 0.010 1.000 1 2009 2009
dbSNP: rs1085308048
rs1085308048
6 0.851 0.320 10 87933175 stop gained T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs11209032
rs11209032
10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2011 2011
dbSNP: rs116855232
rs116855232
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs11805303
rs11805303
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs61756766
rs61756766
9 0.776 0.320 22 41925447 missense variant G/A snv 5.7E-03 5.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs7530511
rs7530511
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.010 1.000 1 2009 2009
dbSNP: rs774359492
rs774359492
7 0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2011 2011