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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2011 2017
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2008 2016
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.020 1.000 2 2008 2008
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 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 1.000 1 2011 2011
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs35866072
rs35866072
MMP8
17 0.716 0.360 11 102713373 missense variant T/G snv 6.0E-02 9.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs77452476
rs77452476
LAMC3
7 0.827 0.080 9 131087186 intron variant T/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs2040639
rs2040639
XRCC2
2 1.000 0.080 7 152678103 upstream gene variant T/C;G snv 0.020 1.000 2 2008 2015
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs13332
rs13332
CTSB
6 0.925 0.120 8 11849072 synonymous variant T/C;G snv 3.5E-02; 0.56 0.010 1.000 1 2012 2012
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 0.750 4 2013 2014
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2014 2016
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2019 2019
dbSNP: rs1057035
rs1057035
DICER1
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs10851478
rs10851478
FAM227B ; LOC105370811
6 0.827 0.080 15 49536822 intron variant T/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs17071138
rs17071138
SERPINB5
2 1.000 0.080 18 63476675 upstream gene variant T/C snv 2.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs511044
rs511044
CASP5
3 0.925 0.120 11 105024783 upstream gene variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2015 2015
dbSNP: rs751763046
rs751763046
EXO1
8 0.790 0.200 1 241885375 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs7778413
rs7778413
SND1
2 1.000 0.080 7 127717662 intron variant T/C snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs8190315
rs8190315
BID
5 0.851 0.240 22 17743998 missense variant T/C snv 2.4E-02 3.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs8898
rs8898
CTSB
5 0.925 0.120 8 11845033 3 prime UTR variant T/C snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.333 3 2007 2013