Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852760
rs137852760
MRE11
2 0.925 0.200 11 94479726 missense variant T/C snv 4.0E-06 7.0E-06 0.800 1.000 1 1999 1999
dbSNP: rs137852763
rs137852763
MRE11
6 0.851 0.320 11 94476318 missense variant C/G snv 0.720 1.000 2 2008 2008
dbSNP: rs137852761
rs137852761
MRE11
4 0.882 0.320 11 94447288 stop gained G/A snv 6.0E-05 7.0E-05 0.710 1.000 3 2001 2017
dbSNP: rs137852759
rs137852759
MRE11
2 1.000 0.200 11 94437206 stop gained G/A;C;T snv 2.8E-05; 4.0E-06 0.700 1.000 6 1993 2015
dbSNP: rs371077728
rs371077728
MRE11 ; MIR548L
6 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.700 1.000 3 2014 2017
dbSNP: rs759130031
rs759130031
MRE11
3 0.925 0.200 11 94476288 splice donor variant C/T snv 2.0E-05 0.700 1.000 1 2011 2011
dbSNP: rs1295485913
rs1295485913
MRE11
2 1.000 0.200 11 94435900 splice acceptor variant C/A snv 0.700 0
dbSNP: rs137852762
rs137852762
MRE11
1 1.000 0.200 11 94459466 missense variant G/T snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs372068015
rs372068015
MRE11
1 1.000 0.200 11 94490909 missense variant A/G snv 2.0E-05 0.700 0
dbSNP: rs587781384
rs587781384
MRE11
3 0.925 0.200 11 94456323 stop gained C/A;T snv 3.2E-05 0.700 0
dbSNP: rs587781442
rs587781442
MRE11
4 0.882 0.200 11 94435846 frameshift variant -/GAAGTGGTAGGAAAAATGTC delins 7.0E-05 0.700 0
dbSNP: rs587781822
rs587781822
MRE11
2 1.000 0.200 11 94435901 splice acceptor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs774277300
rs774277300
MRE11
17 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
dbSNP: rs143026800
rs143026800
NLRP2
2 0.925 0.200 19 54982440 missense variant A/T snv 8.0E-06 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs749918573
rs749918573
NBN
2 0.925 0.200 8 89953375 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004