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: 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: rs4282438
rs4282438
6 0.807 0.280 6 33104395 intron variant T/G snv 3.1E-02 0.800 1.000 1 2013 2013
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: rs1957173
rs1957173
1 1.000 0.200 14 45937713 intron variant C/T snv 4.6E-02 0.700 1.000 1 2017 2017
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: 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: 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: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2009 2009
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: 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: rs10489629
rs10489629
5 0.827 0.240 1 67222666 intron variant T/C snv 0.48 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: 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: 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: 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: rs117026326
rs117026326
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.800 1.000 2 2013 2016
dbSNP: rs1507153
rs1507153
1 1.000 0.200 6 78774669 intergenic variant C/A snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs17074492
rs17074492
1 1.000 0.200 13 81587764 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1085308048
rs1085308048
6 0.851 0.320 10 87933175 stop gained T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs11048434
rs11048434
1 1.000 0.200 12 9001336 intron variant G/A snv 0.28 0.700 1.000 1 2017 2017