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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2006 2006
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2006 2006
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2006 2006
dbSNP: rs150435881
rs150435881
CYP2C9
1 1.000 0.080 10 94947853 missense variant C/A;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.010 1.000 1 2006 2006
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2007 2007
dbSNP: rs1316694869
rs1316694869
TCN2
2 0.925 0.160 22 30615698 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2007 2007
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 1.000 1 2007 2007
dbSNP: rs2278008
rs2278008
AMACR ; C1QTNF3-AMACR
4 0.851 0.160 5 33989413 missense variant C/T snv 0.70 0.74 0.010 1.000 1 2007 2007
dbSNP: rs2287780
rs2287780
MTRR
2 0.925 0.080 5 7889191 missense variant C/T snv 6.1E-02 4.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs2287939
rs2287939
AMACR ; C1QTNF3-AMACR
4 0.851 0.160 5 33998778 missense variant A/C;G snv 1.6E-05; 0.70 0.010 1.000 1 2007 2007
dbSNP: rs2303080
rs2303080
MTRR
1 1.000 0.080 5 7878311 missense variant T/A snv 4.3E-02 3.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.010 1.000 1 2007 2007
dbSNP: rs3842787
rs3842787
PTGS1
11 0.776 0.200 9 122371228 missense variant C/T snv 5.9E-02 8.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs188096
rs188096
SLC10A2
1 1.000 0.080 13 103052694 missense variant A/C snv 0.85 0.89 0.010 1.000 1 2008 2008
dbSNP: rs41281678
rs41281678
SLC10A2
1 1.000 0.080 13 103052700 synonymous variant G/A snv 1.9E-02 2.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs288326
rs288326
FRZB
9 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 0.010 1.000 1 2009 2009
dbSNP: rs3789243
rs3789243
ABCB1
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 < 0.001 1 2009 2009
dbSNP: rs762117133
rs762117133
APC
3 1.000 0.080 5 112801324 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.760 0.857 7 2010 2019
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2010 2010