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: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs1429638
rs1429638
2 0.925 0.080 4 73872213 downstream gene variant C/A;G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1891320
rs1891320
2 0.925 0.080 1 19970618 upstream gene variant C/T snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs2808630
rs2808630
13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 < 0.001 1 2018 2018
dbSNP: rs352162
rs352162
3 0.882 0.160 3 52218953 non coding transcript exon variant T/C snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs653765
rs653765
10 0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45 0.020 1.000 2 2015 2019
dbSNP: rs11684747
rs11684747
2 0.925 0.080 2 9557042 upstream gene variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11689958
rs11689958
2 0.925 0.080 2 9557277 upstream gene variant G/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs12692386
rs12692386
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs1524668
rs1524668
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 1.000 1 2016 2016
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 2017 2017
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.030 1.000 3 2012 2017
dbSNP: rs1800624
rs1800624
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs17602729
rs17602729
2 0.925 0.080 1 114693436 stop gained G/A;T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs11216153
rs11216153
2 0.925 0.080 11 116834384 upstream gene variant G/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs506027
rs506027
2 0.925 0.080 6 106326589 upstream gene variant G/A snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs510432
rs510432
11 0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs4358188
rs4358188
BPI
7 0.827 0.160 20 38318446 missense variant G/A;C snv 0.46 0.020 1.000 2 2001 2014
dbSNP: rs497116
rs497116
2 0.925 0.080 11 104892390 stop lost A/G snv 4.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs6586282
rs6586282
CBS
5 0.882 0.080 21 43058387 intron variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs2857656
rs2857656
5 0.851 0.120 17 34254988 upstream gene variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.020 1.000 2 2014 2015
dbSNP: rs2563298
rs2563298
4 0.851 0.200 5 140631730 3 prime UTR variant C/A snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2018 2018
dbSNP: rs1129055
rs1129055
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.020 0.500 2 2018 2019