Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 14
rs368705607
MIXL1
0.882 0.120 1 226225766 missense variant T/C;G snv 2.8E-05; 4.0E-06 7
rs1206736425
FCGR3B
1 161626229 missense variant T/C snv 2
rs142322800
FCGR3A
1 161548502 missense variant T/C snv 1.5E-04 5.6E-05 1
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs4988235
MCM6
0.752 0.400 2 135851076 intron variant G/A;C snv 19
rs79204362
CYP1B1
0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03 10
rs121912678
ACVR1
0.851 0.080 2 157774114 missense variant C/G;T snv 8
rs57865060
CYP1B1-AS1 ; CYP1B1
0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03 6
rs4954218
MAP3K19
0.925 0.080 2 135045855 intron variant G/T snv 0.83 5
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv 4
rs1234344050
COL3A1 ; LOC105373791
2 188984825 missense variant C/G snv 4.0E-06 2
rs387906617
CREB1
2 207567506 missense variant A/G snv 2
rs12329305
OSR1
2 19353152 synonymous variant C/A;T snv 1.6E-04; 5.5E-02 1
rs7650466
EPHA3
0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 7
rs121909173
HESX1
0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 5
rs1057517786
PDCD10
0.925 0.400 3 167704889 stop gained G/A snv 3
rs504849
WNT5A
3 55488911 intron variant T/C;G snv 1
rs524153
WNT5A
3 55491957 upstream gene variant T/A;G snv 1
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31