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: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs34301344
rs34301344
ARL11
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.010 1.000 1 2009 2009
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs755100942
rs755100942
ARL11
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs74315464
rs74315464
ARSA
4 0.882 0.120 22 50627048 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs751039340
rs751039340
ARSA
3 0.882 0.120 22 50625459 missense variant C/A snv 4.2E-06 0.010 1.000 1 2015 2015
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2015 2015
dbSNP: rs869312756
rs869312756
ATM
3 0.925 0.320 11 108307985 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1801243
rs1801243
ATP7B
4 0.851 0.200 13 51974004 missense variant A/C;T snv 0.44; 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs732774
rs732774
ATP7B
5 0.827 0.320 13 51949672 missense variant C/T snv 0.57 0.56 0.010 1.000 1 2015 2015
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2004 2004
dbSNP: rs2240308
rs2240308
AXIN2
18 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 0.010 1.000 1 2014 2014
dbSNP: rs3923087
rs3923087
AXIN2
5 0.827 0.160 17 65553143 intron variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.700 1.000 1 2013 2013
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs200389141
rs200389141
BLM
11 0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 0.010 < 0.001 1 2015 2015
dbSNP: rs10756819
rs10756819
BNC2
1 1.000 0.120 9 16858086 intron variant G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs12379183
rs12379183
BNC2
1 1.000 0.120 9 16865701 intron variant A/G snv 0.26 0.700 1.000 1 2009 2009
dbSNP: rs12379687
rs12379687
BNC2
1 1.000 0.120 9 16854369 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1339552
rs1339552
BNC2
1 1.000 0.120 9 16848792 intron variant C/T snv 0.52 0.700 1.000 1 2009 2009
dbSNP: rs1416742
rs1416742
BNC2
1 1.000 0.120 9 16856885 intron variant G/A snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs2153271
rs2153271
BNC2
3 0.925 0.160 9 16864523 intron variant C/T snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs367899983
rs367899983
BNC2
2 1.000 0.120 9 16864524 intron variant GTCT/- delins 4.2E-05 0.700 1.000 1 2009 2009