Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs1218912272
FLG-AS1 ; FLG
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 8
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
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs397517159
SOS1
0.882 0.200 2 39007168 missense variant C/T snv 4
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs772037717
FBXL4
0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 8
rs1114167294
FOXP4
0.925 6 41587455 frameshift variant T/- del 4
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 46
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27