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: rs80356682
rs80356682
LAMB3
7 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.700 1.000 12 1994 2015
dbSNP: rs137852757
rs137852757
LAMA3
1 1.000 0.080 18 23907639 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 6 1995 2003
dbSNP: rs80356681
rs80356681
LAMB3
1 1.000 0.080 1 209632678 stop gained G/A snv 8.0E-06 4.9E-05 0.700 1.000 6 1996 2006
dbSNP: rs146794392
rs146794392
LAMB3 ; MIR4260
1 1.000 0.080 1 209623999 stop gained G/A;T snv 2.0E-05; 4.0E-06 0.700 1.000 5 1996 2011
dbSNP: rs370148688
rs370148688
LAMB3
1 1.000 0.080 1 209633135 splice acceptor variant T/C;G snv 1.2E-05 0.700 1.000 5 1997 2011
dbSNP: rs80356683
rs80356683
LAMC2
1 1.000 0.080 1 183215467 stop gained C/T snv 4.0E-06 0.700 1.000 5 1994 2008
dbSNP: rs121912484
rs121912484
LAMB3
1 1.000 0.080 1 209625794 stop gained C/T snv 0.700 1.000 4 1998 2015
dbSNP: rs1296034886
rs1296034886
LAMA3
1 1.000 0.080 18 23949925 splice donor variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 4 2002 2016
dbSNP: rs201551805
rs201551805
LAMB3
1 1.000 0.080 1 209625919 stop gained G/A snv 5.2E-05 6.3E-05 0.700 1.000 4 1996 2005
dbSNP: rs769967565
rs769967565
LAMB3
2 0.925 0.080 1 209627502 frameshift variant TG/- del 2.0E-05 3.5E-05 0.700 1.000 4 1998 2013
dbSNP: rs777672897
rs777672897
LAMB3
1 1.000 0.080 1 209650115 splice acceptor variant -/G delins 3.2E-05 1.4E-05 0.700 1.000 4 1995 2011
dbSNP: rs1057517096
rs1057517096
LAMB3
1 1.000 0.080 1 209629752 stop gained G/A snv 4.0E-06 0.700 1.000 3 2005 2015
dbSNP: rs776537364
rs776537364
LAMB3
1 1.000 0.080 1 209634547 frameshift variant -/A delins 1.6E-05 2.1E-05 0.700 1.000 3 1996 2000
dbSNP: rs1057516539
rs1057516539
LAMB3
1 1.000 0.080 1 209633069 splice donor variant C/T snv 1.4E-05 0.700 1.000 2 1995 2015
dbSNP: rs1057516809
rs1057516809
LAMB3
1 1.000 0.080 1 209630688 stop gained A/T snv 0.700 1.000 2 1997 2015
dbSNP: rs118203901
rs118203901
LAMC2
2 0.925 0.080 1 183222181 stop gained C/T snv 2.1E-05 0.700 1.000 2 2002 2006
dbSNP: rs768415785
rs768415785
LAMA3
1 1.000 0.080 18 23916600 stop gained C/T snv 4.0E-06 0.700 1.000 2 2006 2015
dbSNP: rs769151482
rs769151482
LAMB3
1 1.000 0.080 1 209626876 frameshift variant CT/- del 4.0E-06 0.700 1.000 2 2001 2015
dbSNP: rs770302956
rs770302956
LAMB3
1 1.000 0.080 1 209629732 splice region variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 2 2002 2018
dbSNP: rs772421306
rs772421306
LAMB3
2 0.925 0.080 1 209618519 frameshift variant C/- delins 1.6E-05 1.4E-05 0.700 1.000 2 2006 2015
dbSNP: rs80356680
rs80356680
LAMB3
3 0.882 0.080 1 209650023 stop gained G/A snv 5.6E-05 6.3E-05 0.700 1.000 2 1996 2000
dbSNP: rs1057516473
rs1057516473
LAMC2
1 1.000 0.080 1 183243172 frameshift variant G/- delins 0.700 1.000 1 2006 2006
dbSNP: rs1057516476
rs1057516476
LAMA3
1 1.000 0.080 18 23904583 frameshift variant G/- delins 0.700 1.000 1 2003 2003
dbSNP: rs1158945258
rs1158945258
LAMA3
1 1.000 0.080 18 23903037 frameshift variant AG/- delins 1.4E-05 0.700 1.000 1 2002 2002
dbSNP: rs118203899
rs118203899
LAMC2
1 1.000 0.080 1 183225719 stop gained C/G;T snv 0.700 1.000 1 1994 1994