Source: ALL
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 0.857 7 1999 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2004 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2011 2018
dbSNP: rs2292096
rs2292096
CAMSAP2
2 0.925 0.040 1 200857641 3 prime UTR variant A/G snv 0.14 0.810 1.000 2 2012 2013
dbSNP: rs10157763
rs10157763
AKT3
2 1.000 0.040 1 243831739 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1130183
rs1130183
KCNJ10
6 0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs12059546
rs12059546
CHRM3
2 0.925 0.040 1 239806797 intron variant A/G snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs121908165
rs121908165
HAX1
4 0.925 0.120 1 154273538 stop gained C/G;T snv 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs121918612
rs121918612
ATP1A2
3 0.925 0.040 1 160127704 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1394074
rs1394074
OLFML3
1 1.000 0.040 1 114005041 intron variant C/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs141860749
rs141860749
SYT2
2 1.000 0.040 1 202668176 intron variant C/A snv 2.7E-04 0.700 1.000 1 2015 2015
dbSNP: rs148412181
rs148412181
PPT1
3 0.882 0.120 1 40080483 missense variant C/A;T snv 1.2E-05; 8.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs1558005340
rs1558005340
ATP1A2
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
4 0.851 0.280 1 160135284 frameshift variant GT/- delins 0.700 1.000 1 2020 2020
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs2486253
rs2486253
KCNJ10
3 0.882 0.080 1 160039629 3 prime UTR variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2516839
rs2516839
USF1
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs281865071
rs281865071
CHRNB2
5 0.882 0.080 1 154571759 missense variant C/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs61822012
rs61822012
KCNJ9 ; KCNJ10
1 1.000 0.040 1 160071368 intron variant A/G snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs74315322
rs74315322
HAX1
3 1.000 0.040 1 154275165 stop gained C/T snv 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs746795369
rs746795369
ATP1A2
6 0.827 0.080 1 160139969 missense variant C/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs771390
rs771390
LOC105378639
1 1.000 0.040 1 34285335 intergenic variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs121913578
rs121913578
MTR
5 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.700 0