Gene: LAMA2 ×
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: rs1018100729
rs1018100729
LAMA2
1 1.000 0.120 6 129050088 stop gained C/T snv 0.700 1.000 2 2005 2015
dbSNP: rs1055407857
rs1055407857
LAMA2
1 1.000 0.120 6 129492078 splice donor variant G/A snv 0.700 0
dbSNP: rs1064797040
rs1064797040
LAMA2
1 1.000 0.120 6 129427751 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1064797327
rs1064797327
LAMA2
1 1.000 0.120 6 129149097 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1131691660
rs1131691660
LAMA2
1 1.000 0.120 6 129353358 splice donor variant G/C;T snv 4.0E-06 0.700 0
dbSNP: rs117422805
rs117422805
LAMA2
1 1.000 0.120 6 129280072 missense variant C/T snv 1.9E-03 1.7E-03 0.700 0
dbSNP: rs1180309541
rs1180309541
LAMA2
1 1.000 0.120 6 129316068 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1209130981
rs1209130981
LAMA2
2 1.000 0.120 6 129149008 frameshift variant AT/- del 2.8E-05 0.700 0
dbSNP: rs1211739649
rs1211739649
LAMA2
1 1.000 0.120 6 129393064 frameshift variant A/-;AAAAA delins 0.700 1.000 1 2015 2015
dbSNP: rs121913569
rs121913569
LAMA2
1 1.000 0.120 6 129315638 stop gained C/T snv 0.700 1.000 2 1995 2015
dbSNP: rs121913570
rs121913570
LAMA2
1 1.000 0.120 6 129481381 missense variant T/C snv 1.4E-05 0.800 1.000 5 2001 2017
dbSNP: rs121913572
rs121913572
LAMA2
3 0.882 0.120 6 129481422 stop gained C/G;T snv 5.2E-05 3.5E-05 0.700 1.000 2 2010 2015
dbSNP: rs121913573
rs121913573
LAMA2
1 1.000 0.120 6 129287893 missense variant T/C snv 7.0E-06 0.700 1.000 4 2001 2017
dbSNP: rs121913574
rs121913574
LAMA2
2 0.925 0.120 6 129190317 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 4 2001 2017
dbSNP: rs121913575
rs121913575
LAMA2
2 0.925 0.120 6 129353285 stop gained C/T snv 8.0E-06 0.700 1.000 2 2010 2016
dbSNP: rs121913576
rs121913576
LAMA2
2 0.925 0.120 6 129464444 stop gained C/A;T snv 8.0E-06; 2.4E-05 0.700 1.000 2 2013 2015
dbSNP: rs121913577
rs121913577
LAMA2
1 1.000 0.120 6 129297729 stop gained C/A snv 8.0E-06 0.700 0
dbSNP: rs1246940477
rs1246940477
LAMA2
1 1.000 0.120 6 129353321 frameshift variant A/- delins 7.0E-06 0.700 0
dbSNP: rs1262029350
rs1262029350
LAMA2
1 1.000 0.120 6 129445822 splice donor variant G/C;T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1278823424
rs1278823424
LAMA2
1 1.000 0.120 6 129270623 splice acceptor variant G/A;T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1289855948
rs1289855948
LAMA2
1 1.000 0.120 6 129492394 stop gained G/T snv 4.0E-06 0.700 0
dbSNP: rs1293303410
rs1293303410
LAMA2
1 1.000 0.120 6 129481348 frameshift variant C/- del 2.1E-05 0.700 1.000 1 1998 1998
dbSNP: rs1296761337
rs1296761337
LAMA2
1 1.000 0.120 6 129143900 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs1326401124
rs1326401124
LAMA2
1 1.000 0.120 6 129165677 splice donor variant T/G snv 4.0E-06 0.700 0
dbSNP: rs1338860420
rs1338860420
LAMA2
1 1.000 0.120 6 129154599 frameshift variant A/- del 0.700 1.000 1 2014 2014