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: rs147077184
rs147077184
LAMA2
1 1.000 6 129349348 missense variant C/T snv 3.7E-03 3.3E-03 0.800 1.000 2 2011 2014
dbSNP: rs34367843
rs34367843
LAMA2
1 1.000 6 129473344 missense variant A/T snv 2.2E-03 8.9E-03 0.700 1.000 2 2011 2014
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 0
dbSNP: rs1554234163
rs1554234163
LAMA2
2 0.925 0.120 6 129177868 splice donor variant T/C snv 0.700 0
dbSNP: rs1554269966
rs1554269966
LAMA2
3 0.882 0.120 6 129315952 splice donor variant T/C snv 0.700 0
dbSNP: rs1562200866
rs1562200866
LAMA2
1 1.000 6 129059891 stop gained C/T snv 0.700 0
dbSNP: rs1562273395
rs1562273395
LAMA2
1 1.000 6 129143989 missense variant T/C snv 0.700 0
dbSNP: rs1562497781
rs1562497781
LAMA2
1 1.000 6 129366363 splice donor variant T/GGCC delins 0.700 0
dbSNP: rs398123373
rs398123373
LAMA2
2 0.925 0.120 6 129316089 stop gained C/G;T snv 4.0E-06; 6.0E-05 0.700 0
dbSNP: rs749522728
rs749522728
LAMA2
2 0.925 0.120 6 129492484 splice donor variant G/A snv 8.0E-06 0.700 0
dbSNP: rs758775001
rs758775001
LAMA2
2 0.925 0.120 6 129391535 stop gained C/G;T snv 2.4E-05 0.700 0
dbSNP: rs762806915
rs762806915
LAMA2
2 0.925 0.120 6 129464371 stop gained C/A snv 2.8E-05 1.4E-05 0.700 0