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: rs553221833
rs553221833
LAMA2
1 1.000 0.120 6 129098274 stop gained G/A snv 4.0E-06 0.700 1.000 2 1998 2015
dbSNP: rs750731624
rs750731624
LAMA2
1 1.000 0.120 6 129287862 frameshift variant T/- delins 8.0E-06 7.0E-06 0.700 1.000 2 2010 2016
dbSNP: rs762806915
rs762806915
LAMA2
2 0.925 0.120 6 129464371 stop gained C/A snv 2.8E-05 1.4E-05 0.700 1.000 2 1998 2015
dbSNP: rs773209126
rs773209126
LAMA2
1 1.000 0.120 6 129165672 stop gained C/T snv 1.6E-05 1.4E-05 0.700 1.000 2 2010 2017
dbSNP: rs1180309541
rs1180309541
LAMA2
1 1.000 0.120 6 129316068 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1211739649
rs1211739649
LAMA2
1 1.000 0.120 6 129393064 frameshift variant A/-;AAAAA delins 0.700 1.000 1 2015 2015
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: rs1338860420
rs1338860420
LAMA2
1 1.000 0.120 6 129154599 frameshift variant A/- del 0.700 1.000 1 2014 2014
dbSNP: rs1441933780
rs1441933780
LAMA2
1 1.000 0.120 6 129059829 stop gained G/A snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs145420388
rs145420388
LAMA2
1 1.000 0.120 6 129300783 stop gained C/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs1554227092
rs1554227092
LAMA2
1 1.000 0.120 6 129149020 frameshift variant -/CT ins 0.700 1.000 1 1998 1998
dbSNP: rs1554286963
rs1554286963
LAMA2
1 1.000 0.120 6 129391572 frameshift variant AAGA/- delins 0.700 1.000 1 2015 2015
dbSNP: rs202247792
rs202247792
LAMA2
5 0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs374403765
rs374403765
LAMA2
1 1.000 0.120 6 128883247 start lost T/C snv 1.4E-05 0.700 1.000 1 1998 1998
dbSNP: rs376088608
rs376088608
LAMA2
1 1.000 0.120 6 129312969 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs398123367
rs398123367
LAMA2
1 1.000 0.120 6 128883358 splice donor variant G/A snv 1.9E-05 7.0E-06 0.700 1.000 1 2010 2010
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 1.000 1 2008 2008
dbSNP: rs398123383
rs398123383
LAMA2
4 1.000 0.120 6 129460287 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs727503992
rs727503992
LAMA2
1 1.000 0.120 6 129315540 frameshift variant AGGGCATTGTTTTTCAACATCCA/- delins 0.700 1.000 1 1998 1998
dbSNP: rs750220830
rs750220830
LAMA2
1 1.000 0.120 6 129315823 frameshift variant TTCTCTACATATAATCCTCAAGT/- delins 1.6E-05 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs757404275
rs757404275
LAMA2
1 1.000 0.120 6 129460250 frameshift variant TA/- delins 4.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs759555791
rs759555791
LAMA2
1 1.000 0.120 6 129288059 splice donor variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs764839142
rs764839142
LAMA2
1 1.000 0.120 6 129312979 frameshift variant G/- delins 8.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs768458445
rs768458445
LAMA2
1 1.000 0.120 6 129393130 frameshift variant -/A delins 1.2E-05 2.1E-05 0.700 1.000 1 2010 2010
dbSNP: rs774051471
rs774051471
LAMA2
1 1.000 0.120 6 129353328 frameshift variant -/TGCA delins 4.0E-06 0.700 1.000 1 2005 2005