Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs981267400
DNAH5
5 13871562 splice donor variant A/G snv 4.0E-06 1
rs926748713
TRMU
1.000 22 46352140 missense variant T/G snv 4.0E-06 2.1E-05 2
rs917027829
CSF1R
1.000 5 150069942 stop gained G/A;T snv 4.0E-06 3
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv 3
rs886040988
CHD7
1.000 0.080 8 60830422 missense variant T/A snv 3
rs886039915
CHD4
0.925 12 6591713 missense variant C/T snv 3
rs886039392
ITPR1
0.882 0.240 3 4645678 missense variant C/T snv 4
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
rs878853048
HDAC8
X 72567910 missense variant C/G snv 2
rs875989879
CHD7
0.925 0.080 8 60853017 stop gained C/T snv 3
rs869312965
GLI2
1.000 2 120955349 frameshift variant G/- del 2
rs869312953
JAK1
0.851 0.120 1 64846735 missense variant G/T snv 2
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 4
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs866435331
CDH23 ; C10orf105
10 71712685 stop gained C/T snv 1
rs866395428
LCA5
1.000 0.040 6 79493633 stop gained G/A snv 3
rs864321692
WAC
0.925 10 28583498 stop gained C/A snv 4
rs864309703
GJA8
1.000 0.200 1 147908106 missense variant G/A;C;T snv 2
rs864309503
MORC2
0.882 0.200 22 30941503 missense variant G/A snv 2
rs80358312
LRP5
0.925 0.080 11 68403607 missense variant G/A snv 7.0E-06 3
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv 6
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs80338677
MAN2B1
0.925 0.080 19 12655693 splice donor variant C/G snv 9.3E-05 7.7E-05 4