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: rs1555247732
rs1555247732
IGHMBP2
2 0.925 0.120 11 68935344 frameshift variant -/A delins 0.700 0
dbSNP: rs1566443170
rs1566443170
IGHMBP2
2 0.925 0.120 11 68933375 frameshift variant -/T delins 0.700 0
dbSNP: rs571142182
rs571142182
IGHMBP2
1 1.000 0.120 11 68933397 missense variant A/C;G snv 1.2E-05; 1.2E-05 0.700 1.000 7 2001 2009
dbSNP: rs137852666
rs137852666
IGHMBP2
2 0.925 0.120 11 68911530 missense variant A/G snv 0.800 1.000 7 2001 2009
dbSNP: rs1566424655
rs1566424655
IGHMBP2
2 0.925 0.120 11 68908143 splice acceptor variant A/G snv 0.700 1.000 3 2003 2015
dbSNP: rs1566445029
rs1566445029
IGHMBP2
2 0.925 0.120 11 68935297 splice acceptor variant A/G snv 0.700 1.000 3 2003 2015
dbSNP: rs746581714
rs746581714
IGHMBP2
4 0.882 0.120 11 68917801 frameshift variant AAGAA/- delins 8.0E-06 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs724159994
rs724159994
IGHMBP2
3 0.882 0.120 11 68939658 frameshift variant AG/- delins 0.700 1.000 4 2004 2015
dbSNP: rs145226920
rs145226920
IGHMBP2
2 0.925 0.120 11 68933864 stop gained C/A;T snv 1.6E-04; 3.0E-05 0.700 1.000 6 1975 2015
dbSNP: rs35193202
rs35193202
IGHMBP2
1 1.000 0.120 11 68929315 missense variant C/A;T snv 2.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs368775789
rs368775789
IGHMBP2
2 0.925 0.120 11 68935403 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1555243325
rs1555243325
IGHMBP2
1 1.000 0.120 11 68911580 missense variant C/G snv 0.700 0
dbSNP: rs137852670
rs137852670
IGHMBP2
1 1.000 0.120 11 68929229 missense variant C/G;T snv 8.0E-06 0.800 1.000 7 2001 2009
dbSNP: rs1465803265
rs1465803265
IGHMBP2
1 1.000 0.120 11 68936287 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 7 2001 2009
dbSNP: rs372181708
rs372181708
IGHMBP2
3 0.882 0.120 11 68933399 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs201563456
rs201563456
IGHMBP2
1 1.000 0.120 11 68936389 missense variant C/T snv 8.0E-06 4.2E-05 0.700 1.000 7 2001 2009
dbSNP: rs780594709
rs780594709
IGHMBP2
4 0.882 0.120 11 68933854 missense variant C/T snv 6.3E-05 2.8E-05 0.800 1.000 7 2009 2016
dbSNP: rs1324667543
rs1324667543
IGHMBP2
2 0.925 0.120 11 68908327 stop gained C/T snv 4.0E-06 1.4E-05 0.700 1.000 3 2003 2017
dbSNP: rs991227431
rs991227431
IGHMBP2
2 0.925 0.120 11 68936293 stop gained C/T snv 2.0E-05 1.4E-05 0.700 1.000 2 2003 2014
dbSNP: rs1000091588
rs1000091588
IGHMBP2
1 1.000 0.120 11 68935374 stop gained C/T snv 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1566430156
rs1566430156
IGHMBP2
2 0.925 0.120 11 68914937 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1373247548
rs1373247548
IGHMBP2
2 0.925 0.120 11 68937055 stop gained C/T snv 0.700 0
dbSNP: rs137852668
rs137852668
IGHMBP2
1 1.000 0.120 11 68906103 stop gained C/T snv 0.700 0
dbSNP: rs557416644
rs557416644
IGHMBP2
1 1.000 0.120 11 68915015 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs751549678
rs751549678
IGHMBP2
1 1.000 0.120 11 68933390 missense variant C/T snv 1.2E-05 0.700 0