Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 5
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1085307051
MEF2C-AS1 ; MEF2C
0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del 5
rs876661308
MEF2C
1.000 5 88823780 missense variant T/A snv 4
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv 5
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057519438
CDK20
0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 4
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs1085308040
PTEN
0.851 0.200 10 87961096 missense variant G/A;T snv 6
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs772887102
RARS2
0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 9
rs781417096
RARS2
0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 9
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs56275071
GLUD1
0.882 0.120 10 87062757 missense variant G/A snv 1
rs121909731
GLUD1
0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 1
rs80358284
PRSS23 ; FZD4
0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 10
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs1565035177
SLC25A22
0.925 0.040 11 792146 frameshift variant CA/- delins 4
rs1195505218
SLC25A22
0.925 0.040 11 792142 missense variant C/T snv 4.1E-06 4
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs72554644
ATP7A ; PGK1
1.000 0.160 X 78012885 stop gained G/A;T snv 1
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs1564617866
POLR3A
0.925 0.200 10 78000983 missense variant T/G snv 7
rs587780315
FBXL3 ; CLN5
1.000 0.120 13 76996086 frameshift variant G/- delins 2
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 1