Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs137852763
MRE11
0.851 0.320 11 94476318 missense variant C/G snv 6
rs371077728
MRE11 ; MIR548L
0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 6
rs137852761
MRE11
0.882 0.320 11 94447288 stop gained G/A snv 6.0E-05 7.0E-05 4
rs587781442
MRE11
0.882 0.200 11 94435846 frameshift variant -/GAAGTGGTAGGAAAAATGTC delins 7.0E-05 4
rs587781384
MRE11
0.925 0.200 11 94456323 stop gained C/A;T snv 3.2E-05 3
rs759130031
MRE11
0.925 0.200 11 94476288 splice donor variant C/T snv 2.0E-05 3
rs137852760
MRE11
0.925 0.200 11 94479726 missense variant T/C snv 4.0E-06 7.0E-06 2
rs143026800
NLRP2
0.925 0.200 19 54982440 missense variant A/T snv 8.0E-06 3.5E-05 2
rs749918573
NBN
0.925 0.200 8 89953375 missense variant G/A snv 4.0E-06 2