Source: BEFREE ×
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 0.080 0.875 8 2003 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2006 2019
dbSNP: rs121913237
rs121913237
NRAS
42 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 4 1987 2017
dbSNP: rs2072671
rs2072671
CDA
14 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2009 2015
dbSNP: rs1800871
rs1800871
IL10 ; IL19
107 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2015 2018
dbSNP: rs1800872
rs1800872
IL10 ; IL19
118 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2015 2019
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2019
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 2018 2018
dbSNP: rs1052576
rs1052576
CASP9
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs10873876
rs10873876
ST6GALNAC3
1 1.000 0.040 1 76306643 intron variant T/C snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
38 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 1 1987 2016
dbSNP: rs1203633
rs1203633
PRDM2
1 1.000 0.040 1 13760080 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2013 2013
dbSNP: rs2297141
rs2297141
CCN1
2 0.925 0.080 1 85581241 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs55829688
rs55829688
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
5 0.827 0.200 1 173868168 5 prime UTR variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs6576776
rs6576776
CCN1
2 0.925 0.080 1 85584394 downstream gene variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs6682925
rs6682925
IL23R ; C1orf141
11 0.776 0.160 1 67165579 intron variant C/T snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs763110
rs763110
FASLG
29 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs147001633
rs147001633
DNMT3A
9 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.800 1.000 12 2010 2019
dbSNP: rs121913500
rs121913500
IDH1
83 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.760 0.923 6 2009 2019
dbSNP: rs11554137
rs11554137
IDH1
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.040 0.750 4 2010 2018
dbSNP: rs121913499
rs121913499
IDH1
40 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.740 1.000 4 2009 2016
dbSNP: rs1057519781
rs1057519781
ALK
8 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1205046029
rs1205046029
INPP5D
1 1.000 0.040 2 233164391 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1233753551
rs1233753551
CYP1B1 ; CYP1B1-AS1
4 0.851 0.160 2 38074751 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015