Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs122445110
ATRX
0.882 0.200 X 77589902 missense variant A/G snv 3
rs1555934843
PDHA1
1.000 X 19357651 splice acceptor variant G/A snv 3
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv 3
rs1556019107
PHF6
1.000 X 134415106 stop gained C/T snv 3
rs1556779417
RBM10
1.000 X 47181541 frameshift variant GT/- delins 3
rs1557099144
PHF8
1.000 X 53985131 frameshift variant -/C delins 3
rs606231189
MAP3K15 ; PDHA1
0.925 0.040 X 19359619 frameshift variant -/ATCA delins 3
rs797044863
ZC4H2
1.000 X 64921894 stop gained G/A snv 3
rs1131690789
RBM10
1.000 X 47181316 frameshift variant AG/- delins 2
rs1555904596
ANOS1
1.000 X 8731936 frameshift variant -/AGCAGCCGCGC delins 2
rs1555927554
RPS6KA3
1.000 X 20164964 stop gained G/A snv 2
rs1555933851
ZC4H2
1.000 X 64919152 frameshift variant -/G delins 2
rs1555953882
DDX3X
1.000 X 41345507 frameshift variant GACA/- delins 2
rs1555979596
LOC105373252 ; SLC16A2
1.000 0.080 X 74421994 frameshift variant CT/- delins 2
rs1556299881
PRPS1
1.000 X 107640900 splice acceptor variant A/G snv 2
rs1556308480
KDM6A
1.000 X 45059287 stop gained C/T snv 2
rs1556334793
MED12
1.000 X 71122558 frameshift variant G/- delins 2
rs1556340124
MED12
1.000 X 71141320 stop gained C/T snv 2
rs1557179659
FLNA
1.000 X 154367943 missense variant C/T snv 2