Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913572
rs121913572
LAMA2
0.882 0.120 6 129481422 stop gained C/G;T snv 5.2E-05 3.5E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 2010 2015
dbSNP: rs145465528
rs145465528
LAMA2
0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1554269966
rs1554269966
LAMA2
0.882 0.120 6 129315952 splice donor variant T/C snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs121913574
rs121913574
LAMA2
0.925 0.120 6 129190317 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 4 2001 2017
dbSNP: rs749522728
rs749522728
LAMA2
0.925 0.120 6 129492484 splice donor variant G/A snv 8.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 3 2007 2015
dbSNP: rs758775001
rs758775001
LAMA2
0.925 0.120 6 129391535 stop gained C/G;T snv 2.4E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 3 2010 2017
dbSNP: rs121913575
rs121913575
LAMA2
0.925 0.120 6 129353285 stop gained C/T snv 8.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 2010 2016
dbSNP: rs121913576
rs121913576
LAMA2
0.925 0.120 6 129464444 stop gained C/A;T snv 8.0E-06; 2.4E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 2013 2015
dbSNP: rs762806915
rs762806915
LAMA2
0.925 0.120 6 129464371 stop gained C/A snv 2.8E-05 1.4E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 1998 2015
dbSNP: rs202247792
rs202247792
LAMA2
0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 1 2010 2010
dbSNP: rs398123373
rs398123373
LAMA2
0.925 0.120 6 129316089 stop gained C/G;T snv 4.0E-06; 6.0E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 1 2008 2008
dbSNP: rs1554234163
rs1554234163
LAMA2
0.925 0.120 6 129177868 splice donor variant T/C snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1554301637
rs1554301637
LAMA2
0.925 0.120 6 129464289 splice acceptor variant TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- delins
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs121913570
rs121913570
LAMA2
1.000 0.120 6 129481381 missense variant T/C snv 1.4E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.800 1.000 5 2001 2017
dbSNP: rs771046502
rs771046502
LAMA2
1.000 0.120 6 129401345 splice region variant G/C snv 2.0E-05 2.1E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 5 2000 2017
dbSNP: rs775676341
rs775676341
LAMA2
1.000 0.120 6 129267127 stop gained C/A;T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 5 2001 2015
dbSNP: rs121913573
rs121913573
LAMA2
1.000 0.120 6 129287893 missense variant T/C snv 7.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 4 2001 2017
dbSNP: rs747349942
rs747349942
LAMA2
1.000 0.120 6 129401254 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 3 2010 2015
dbSNP: rs749797580
rs749797580
LAMA2 ; LOC102723409
1.000 0.120 6 129516273 stop gained A/T snv 4.0E-06 7.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 3 1999 2000
dbSNP: rs756854513
rs756854513
LAMA2
1.000 0.120 6 129316161 stop gained C/G;T snv 1.2E-05; 8.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 3 2010 2015
dbSNP: rs1018100729
rs1018100729
LAMA2
1.000 0.120 6 129050088 stop gained C/T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 2005 2015
dbSNP: rs121913569
rs121913569
LAMA2
1.000 0.120 6 129315638 stop gained C/T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 1995 2015
dbSNP: rs1480934961
rs1480934961
LAMA2
1.000 0.120 6 129478729 frameshift variant -/AAGA delins 7.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 2008 2014
dbSNP: rs1554278541
rs1554278541
LAMA2
1.000 0.120 6 129353162 splice acceptor variant A/T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 1995 2015
dbSNP: rs186538779
rs186538779
LAMA2
1.000 0.120 6 129280071 missense variant A/C;G snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 2014 2015