Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 11
rs781984979
PEX11B
0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 11