Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3218716
MYH7
0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 17
rs74315329
MYOC ; MYOCOS
0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 15
rs1555908409
RAC2
0.851 0.160 22 37232842 missense variant C/T snv 7
rs121917894
IFTAP ; RAG2
0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 5
rs104894287
RAG1 ; RAG2
0.827 0.200 11 36575825 missense variant C/G;T snv 3.6E-05 5
rs121908726
ADA
0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06 4
rs121908727
ADA
0.851 0.160 20 44624272 missense variant G/T snv 1.2E-05 4
rs28936072
DKC1
0.851 0.200 X 154765472 missense variant T/C snv 4
rs148508754
IFTAP ; RAG2
0.882 0.120 11 36594065 missense variant C/A;G snv 4.0E-06; 4.0E-06 4
rs121908723
PKIG ; ADA
0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05 4
rs121918572
RAG1 ; RAG2
0.851 0.160 11 36575630 missense variant C/T snv 4.0E-06 1.4E-05 4
rs121908735
ADA
0.882 0.160 20 44625581 missense variant G/A snv 1.4E-05 3
rs121908721
ADA ; PKIG
0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05 3
rs1064793347
CXorf65 ; IL2RG
0.925 0.120 X 71107864 stop gained G/A snv 3
rs193922641
IL7R
0.882 0.120 5 35867437 missense variant G/A snv 1.2E-05 4.2E-05 3
rs137852624
JAK3
0.882 0.120 19 17843786 missense variant T/C snv 4.0E-06 3
rs193922464
RAG1
0.882 0.160 11 36573626 stop gained C/G;T snv 4.0E-06; 2.0E-05 3
rs1555844617
ADA
0.925 0.120 20 44625650 frameshift variant -/T delins 2
rs780014431
ADA
0.925 0.120 20 44625623 stop gained G/A snv 2.0E-05 7.0E-06 2
rs1450116153
GHR
1.000 0.120 5 42711220 missense variant T/C snv 8.0E-06 7.0E-06 2
rs193922348
IL2RG
1.000 0.120 X 71110295 missense variant A/C;G snv 2
rs104893894
IL7R
0.925 0.120 5 35871070 missense variant C/T snv 4.0E-06 2
rs193922361
JAK3
0.925 0.120 19 17837171 missense variant G/A snv 2
rs118203993
ORAI1
0.925 0.120 12 121627018 missense variant C/T snv 2
rs150739647
RAG1 ; RAG2
0.925 0.120 11 36576228 missense variant G/A;C snv 4.4E-05; 4.0E-06 2