Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 28
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 17
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs1218912272
FLG-AS1 ; FLG
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 8
rs199422173
ASPM
0.827 0.120 1 197101468 frameshift variant CT/- delins 2.3E-04 1.7E-04 7
rs137853066
KCNJ10
0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06 6
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 6
rs80359826
SLC2A1
0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 6
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1064795945
ASPM
1.000 0.120 1 197102332 frameshift variant AAGT/- delins 5
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs869312689
ZBTB18
0.925 0.160 1 244053934 missense variant T/C snv 5
rs571640983
MFSD2A
0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06 4
rs199422146
ASPM
1.000 0.120 1 197142522 frameshift variant CT/- delins 7.0E-06 2
rs1060499757
ASPM
1 197101677 frameshift variant CT/- delins 1
rs1060499758
ASPM
1 197094079 splice region variant C/T snv 1
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 11
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10