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: rs773242930
rs773242930
IGHMBP2
2 0.925 0.120 11 68936848 stop gained C/T snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs879253887
rs879253887
IGHMBP2
6 0.925 0.120 11 68934542 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs137852667
rs137852667
IGHMBP2
3 0.882 0.120 11 68935404 missense variant G/A snv 4.4E-05 0.800 1.000 12 2001 2015
dbSNP: rs137852665
rs137852665
IGHMBP2
2 0.925 0.120 11 68934466 missense variant G/A snv 2.5E-05 1.4E-05 0.800 1.000 10 2001 2015
dbSNP: rs151079750
rs151079750
IGHMBP2
1 1.000 0.120 11 68936288 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 8 2001 2009
dbSNP: rs1057518588
rs1057518588
IGHMBP2
6 0.851 0.160 11 68908632 splice donor variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 3 2003 2015
dbSNP: rs770111639
rs770111639
IGHMBP2
1 1.000 0.120 11 68935359 missense variant G/A snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs886043773
rs886043773
IGHMBP2
2 0.925 0.120 11 68917883 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1057518943
rs1057518943
IGHMBP2
5 1.000 0.120 11 68906163 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs776730737
rs776730737
IGHMBP2
1 1.000 0.120 11 68929266 stop gained G/A;C;T snv 8.0E-06; 8.0E-06 0.700 1.000 7 2001 2009
dbSNP: rs797044802
rs797044802
IGHMBP2
3 0.882 0.120 11 68908338 splice donor variant G/A;T snv 4.0E-06 0.700 1.000 4 2003 2016
dbSNP: rs777575504
rs777575504
IGHMBP2
2 0.925 0.120 11 68914902 missense variant G/A;T snv 2.0E-05; 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs786205090
rs786205090
IGHMBP2
2 0.925 0.120 11 68937092 splice donor variant G/A;T snv 1.3E-05 0.700 1.000 1 2001 2001
dbSNP: rs556292818
rs556292818
IGHMBP2
2 0.925 0.120 11 68933892 stop gained G/A;T snv 1.4E-05 2.1E-05 0.700 0
dbSNP: rs1160978570
rs1160978570
IGHMBP2
5 0.925 0.120 11 68933482 splice donor variant G/C;T snv 4.1E-06 0.700 0
dbSNP: rs879253865
rs879253865
IGHMBP2
1 1.000 0.120 11 68933409 frameshift variant T/- del 0.700 1.000 1 2015 2015
dbSNP: rs786205089
rs786205089
IGHMBP2
1 1.000 0.120 11 68911566 frameshift variant T/- delins 0.700 0
dbSNP: rs372000714
rs372000714
IGHMBP2
3 0.882 0.120 11 68906120 stop gained T/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs147674615
rs147674615
IGHMBP2
1 1.000 0.120 11 68939671 missense variant T/A;G snv 4.0E-06; 1.0E-03 0.700 1.000 1 2007 2007
dbSNP: rs201060167
rs201060167
IGHMBP2
2 0.925 0.120 11 68929204 missense variant T/C snv 5.6E-05 7.7E-05 0.800 1.000 10 2001 2012
dbSNP: rs759641927
rs759641927
IGHMBP2
2 0.925 0.120 11 68929278 missense variant T/C snv 2.4E-05 2.8E-05 0.800 1.000 8 2001 2014
dbSNP: rs886037759
rs886037759
IGHMBP2 ; MRPL21
2 0.925 0.120 11 68903954 start lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1483165002
rs1483165002
IGHMBP2
1 1.000 0.120 11 68935396 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs137852669
rs137852669
IGHMBP2
1 1.000 0.120 11 68911599 stop gained T/G snv 4.0E-06 7.0E-06 0.700 0