Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1013278 1.000 0.040 7 117963766 regulatory region variant G/A;C snv 1
rs2188836 1.000 0.040 7 117995328 downstream gene variant C/T snv 0.41 2
rs58073046
ARHGEF12
1.000 0.040 11 120377784 intron variant A/G snv 8.7E-02 2
rs11217878
ARHGEF12
1.000 0.040 11 120469674 intron variant G/A snv 0.20 2
rs1554200992
GJA1
0.925 0.160 6 121446966 missense variant C/T snv 2
rs17653265
GJA1
1.000 0.040 6 121447605 missense variant C/T snv 8.1E-03 9.1E-03 2
rs548246291
B3GALT6 ; SDF4
1.000 0.040 1 1232945 missense variant G/A snv 4.0E-05 2.8E-05 1
rs6478746 0.925 0.040 9 126605119 intron variant G/A snv 0.72 3
rs12377624
LOC105376277
1.000 0.040 9 126610831 intron variant G/C snv 0.28 2
rs945686
LMX1B
1.000 0.040 9 126615747 intron variant G/C;T snv 1
rs7859156
LMX1B
0.851 0.040 9 126637749 intron variant T/C snv 0.74 4
rs7854658
LMX1B
0.882 0.040 9 126652659 intron variant G/A snv 0.26 3
rs7924522
ETS1
1.000 0.040 11 128510847 intron variant C/A snv 0.70 2
rs200710076
OPTN
0.925 0.040 10 13109198 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.4E-05 2
rs28939688
OPTN
0.807 0.040 10 13109270 missense variant G/A snv 7
rs11258194
OPTN
0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 9
rs267606929
OPTN
0.827 0.120 10 13132098 missense variant A/G snv 5
rs75654767
OPTN
0.851 0.040 10 13136766 missense variant G/A snv 3.1E-03 1.0E-03 4
rs4241366
SLCO2A1
0.925 0.040 3 134031326 intron variant G/A;C;T snv 2
rs9494457
PDE7B
1.000 0.040 6 136153656 intron variant T/A snv 0.39 2
rs540694424
CNTNAP2
1.000 0.040 7 146650935 intron variant G/C;T snv 1