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: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.030 0.667 3 2008 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2014 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2010 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2010 2012
dbSNP: rs1055259
rs1055259
GSTM3 ; GSTM5
1 1.000 0.120 1 109734239 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs11203289
rs11203289
SDHB
3 0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs1131691061
rs1131691061
SDHB
6 0.827 0.280 1 17054017 start lost C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2014 2014
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1332018
rs1332018
GSTM3 ; GSTM5
6 0.882 0.200 1 109740350 5 prime UTR variant G/T snv 0.64 0.66 0.010 1.000 1 2013 2013
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 < 0.001 1 2019 2019
dbSNP: rs2050462
rs2050462
CSF1
2 0.925 0.120 1 109930334 3 prime UTR variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs3021097
rs3021097
IL10 ; IL19
10 0.752 0.440 1 206773289 5 prime UTR variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs333951
rs333951
CSF1
2 0.925 0.120 1 109909068 upstream gene variant T/C snv 0.74 0.010 < 0.001 1 2018 2018
dbSNP: rs4381241
rs4381241
FAF1
2 0.925 0.120 1 50441766 intron variant T/C snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs7483
rs7483
GSTM3 ; GSTM5
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2013 2013
dbSNP: rs7579899
rs7579899
EPAS1
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.030 1.000 3 2011 2016
dbSNP: rs1143623
rs1143623
IL1B
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs11894252
rs11894252
EPAS1
3 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs12617313
rs12617313
EPAS1
2 0.925 0.120 2 46332637 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1267580705
rs1267580705
EPAS1
4 0.925 0.240 2 46360680 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1550117
rs1550117
DNMT3A
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1609682
rs1609682
IL1A
3 0.882 0.160 2 112782628 intron variant G/T snv 0.70 0.010 1.000 1 2017 2017