Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv 11
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 11
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs1561873941
CUL7
0.925 0.200 6 43040335 frameshift variant T/- del 10
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv 9
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins 9
rs1561881909
CUL7 ; KLC4
0.925 0.200 6 43044835 frameshift variant G/- delins 9
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 9
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins 9
rs797044523
LOC105372797 ; DYRK1A
0.882 21 37480756 frameshift variant -/A delins 9
rs797044524
LOC105372797 ; DYRK1A
0.925 21 37486513 missense variant A/T snv 9
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv 9
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv 9
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins 9
rs875989883
PTCHD1-AS ; PHEX
0.851 0.280 X 22219070 missense variant G/A;C snv 9
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8