Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 17
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs5030869
G6PD
0.882 0.120 X 154532990 missense variant C/A;T snv 5.5E-06; 1.9E-04 6.6E-05 4
rs1555937168
GJB1
1.000 0.080 X 71224099 frameshift variant TG/- delins 3
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv 3
rs1556026984
HPRT1
0.925 0.120 X 134475194 missense variant G/C snv 3
rs1131691608
DDX3X
1.000 X 41346503 splice acceptor variant A/G snv 2
rs1213060424
DLG3
X 70449787 stop gained C/A;T snv 2
rs1555907034
OFD1
X 13760532 frameshift variant T/- delins 2
rs1555912049
PTCHD1
X 23379829 frameshift variant TGCACAGCAAAGAC/- del 2
rs1555952710
DDX3X
1.000 X 41341617 splice donor variant G/C snv 2
rs1556837420
MIR6895 ; KDM5C
1.000 X 53196897 stop gained G/A snv 2
rs1557137745
MECP2
X 154032272 missense variant C/A snv 2
rs863224148
PDHA1
1.000 0.040 X 19350033 missense variant C/T snv 2
rs1556213001
CUL4B
X 120544122 stop gained C/A snv 1
rs1557084549
WDR45
X 49078050 stop gained G/A snv 1
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1555923822
TCF20
1.000 22 42210236 frameshift variant -/T delins 3
rs1555924435
TCF20
22 42210938 frameshift variant G/- delins 2
rs150129663
ACO2
22 41518528 missense variant C/T snv 1.6E-05 2.1E-05 1
rs1555890974
ACO2 ; POLR3H
22 41527919 frameshift variant AG/- del 1
rs1555911098
EP300
22 41168719 splice acceptor variant A/G snv 1
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4