Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs765462548
STN1
0.882 0.160 10 103898989 missense variant C/A;T snv 4.0E-06; 2.4E-05 1
rs1057519583
STN1
0.882 0.160 10 103900115 missense variant C/G snv 1
rs6568431
ATG5
0.790 0.320 6 106140931 intron variant A/C snv 0.61 3
rs564185858
ADD3
0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05 4
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv 6
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 1
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 6
rs4846049
C1orf167 ; MTHFR
0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 1
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 1
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 1
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18 2
rs10431386
MLEC
1.000 0.040 12 120691123 intron variant C/T snv 0.34 1
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 15
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs3024490
IL10 ; IL19
0.742 0.520 1 206771966 intron variant A/C;G;T snv 1
rs1800871
IL19 ; IL10
0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 2
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 1
rs2069837
IL6-AS1 ; IL6
0.724 0.520 7 22728408 intron variant A/C;G snv 2
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8
rs1799724
LTA ; TNF
0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 2
rs1060499939
SPAST
0.882 0.120 2 32137172 missense variant G/C;T snv 4