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
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 36
rs4343
ACE
0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 14
rs1532268
MTRR
0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 12
rs57920071
LMNA
0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 11
rs12921862
AXIN1
0.763 0.200 16 331927 intron variant C/A snv 0.18 10
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv 10
rs104894073
GATA4
0.827 0.080 8 11750213 missense variant G/A;C;T snv 8
rs121912594
CPS1
0.882 0.160 2 210675762 missense variant A/C snv 7
rs870142
STX18-AS1
0.851 0.120 4 4646320 intron variant C/G;T snv 7
rs1057518422
TAB2
0.851 0.240 6 149378954 stop gained C/T snv 7
rs2474937 0.851 0.120 1 118360355 intergenic variant A/G snv 0.25 6
rs1531070
MAML3
0.851 0.120 4 139874173 intron variant G/A snv 0.30 6
rs104894378
TBX5
0.882 0.120 12 114385521 missense variant C/G;T snv 6
rs4808863
CERS1 ; GDF1
0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30 5
rs104894381
TBX5
0.925 0.120 12 114401830 missense variant C/T snv 5
rs2234584
WT1
0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05 5
rs879253817
CIT
0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 4
rs114878910
EXOSC3
0.882 0.080 9 37784894 stop gained G/A;C snv 8.6E-06; 3.1E-04 4