Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770499406
ERCC8
0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 4
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 4
rs797044872
KCNC3
0.882 0.200 19 50323685 missense variant C/T snv 1
rs1569151204
TCF20
0.925 0.160 22 42213495 frameshift variant CA/- delins 2
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv 11
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv 8
rs1555055028
LOC107984406 ; HEPACAM
0.882 0.160 11 124923996 missense variant G/A snv 5
rs1239725461
SCAPER
0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 4
rs760378316
KPNA7
1.000 0.160 7 99203201 stop gained G/A snv 3.2E-05 6.3E-05 1
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs121917929
SCN1A-AS1 ; SCN1A
0.925 0.160 2 166046970 missense variant G/A;T snv 3
rs387906271
CHD7
0.790 0.320 8 60801598 splice region variant G/C snv 11
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv 3
rs104894700
KCNC3
0.925 0.200 19 50323609 missense variant G/C;T snv 1
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv 9
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 10
rs794729664
PTEN
0.925 0.240 10 87952170 stop gained T/A;C;G snv 1
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs1565091862
KCNMA1-AS1 ; KCNMA1
0.925 0.160 10 76944829 missense variant T/C snv 4