Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins 9
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv 9
rs886041239
SMC3
1.000 0.160 10 110593202 missense variant A/G snv 9
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv 8
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv 8
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs786200963
CACNA1A
0.827 0.200 19 13371683 splice region variant C/T snv 6
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6
rs1555055028
LOC107984406 ; HEPACAM
0.882 0.160 11 124923996 missense variant G/A snv 5
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv 5
rs1060505029
TAF13
0.882 0.240 1 109066220 missense variant A/T snv 5
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 4
rs770499406
ERCC8
0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 4
rs1565091862
KCNMA1-AS1 ; KCNMA1
0.925 0.160 10 76944829 missense variant T/C snv 4
rs1239725461
SCAPER
0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 4
rs1060505030
TAF13
0.882 0.240 1 109075001 missense variant A/G;T snv 4
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv 3
rs762864856
LOC112267935 ; GLRA1
0.925 0.200 5 151856384 splice acceptor variant C/G;T snv 8.0E-06 3
rs121917929
SCN1A-AS1 ; SCN1A
0.925 0.160 2 166046970 missense variant G/A;T snv 3
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv 3
rs1569151204
TCF20
0.925 0.160 22 42213495 frameshift variant CA/- delins 2
rs104894700
KCNC3
0.925 0.200 19 50323609 missense variant G/C;T snv 1
rs797044872
KCNC3
0.882 0.200 19 50323685 missense variant C/T snv 1