Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs397509425
GMPPB
0.882 3 49722604 missense variant G/A snv 3.6E-05 1.4E-05 4
rs587777357
TUBB
0.925 6 30724263 missense variant G/A snv 4
rs777218310
ECHS1
0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 4
rs797044854
ZMYND11
0.925 10 252459 missense variant C/A;T snv 4
rs797044884
PTRH2 ; CLTC
0.925 17 59677123 frameshift variant -/GA delins 4
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv 4
rs864321692
WAC
0.925 10 28583498 stop gained C/A snv 4
rs886041877
PTEN
1.000 10 87894025 missense variant A/C;G snv 4
rs1045118320
COQ4
0.925 9 128332219 missense variant C/A snv 7.0E-06 3
rs1304422857
UBE3B
1.000 12 109511304 splice donor variant G/A;T snv 3
rs1313319892
POGZ
1.000 1 151406306 stop gained G/A;T snv 7.0E-06 3