Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12521388 1.000 0.040 5 25912004 downstream gene variant G/A snv 0.29 1
rs1346536 1.000 0.040 5 25915543 downstream gene variant A/G;T snv 1
rs10858047 1.000 0.040 1 114531255 upstream gene variant T/C snv 0.13 1
rs11899372 1.000 0.040 2 127016304 upstream gene variant G/T snv 6.1E-02 1
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv 1
rs926938
AMPD1
1.000 0.040 1 114697195 upstream gene variant A/G;T snv 1
rs7800565 1.000 0.040 7 16740384 TF binding site variant A/G snv 0.16 1
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1568507354
RYR1
0.827 0.200 19 38502879 splice acceptor variant G/A snv 6
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 8
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins 7
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6