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: rs2248374
rs2248374
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2016 2016
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs27044
rs27044
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1347671835
rs1347671835
5 0.827 0.160 16 88639888 missense variant C/A;G snv 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs4908742
rs4908742
2 0.925 0.080 1 8184970 upstream gene variant A/C snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs281875214
rs281875214
7 0.790 0.160 17 80183976 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs281875215
rs281875215
6 0.807 0.160 17 80182790 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2017 2017
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.040 1.000 4 2008 2019
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.020 1.000 2 2012 2014
dbSNP: rs7530511
rs7530511
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.030 1.000 3 2008 2012
dbSNP: rs4655683
rs4655683
1 1.000 0.080 1 67145930 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs12044149
rs12044149
2 0.925 0.080 1 67135003 intron variant G/C;T snv 0.710 1.000 1 2015 2015
dbSNP: rs12356475
rs12356475
1 1.000 0.080 10 66001962 intron variant T/C snv 0.15 0.700 1.000 1 2015 2015
dbSNP: rs767455
rs767455
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.010 1.000 1 2012 2012
dbSNP: rs10865331
rs10865331
5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs13017599
rs13017599
3 0.882 0.160 2 60937196 non coding transcript exon variant G/A snv 0.25 0.810 1.000 3 2012 2015
dbSNP: rs702873
rs702873
3 0.882 0.120 2 60854407 intron variant C/T snv 0.35 0.810 1.000 1 2012 2012
dbSNP: rs2066808
rs2066808
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.020 1.000 2 2013 2019
dbSNP: rs11171806
rs11171806
7 0.807 0.360 12 56339747 synonymous variant G/A snv 4.9E-02 4.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs145699582
rs145699582
1 1.000 0.080 9 5169600 intron variant C/T snv 2.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.030 1.000 3 2004 2010
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.020 0.500 2 2004 2006