Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797044872
KCNC3
0.882 0.200 19 50323685 missense variant C/T snv 1
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv 5
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv 3
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs387906271
CHD7
0.790 0.320 8 60801598 splice region variant G/C snv 11
rs770499406
ERCC8
0.882 0.280 5 60898350 missense variant C/T snv 4.0E-06 7.0E-06 4
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 15
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1239725461
SCAPER
0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 4
rs1565091862
KCNMA1-AS1 ; KCNMA1
0.925 0.160 10 76944829 missense variant T/C snv 4
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs794729664
PTEN
0.925 0.240 10 87952170 stop gained T/A;C;G snv 1
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34