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: rs1055407857
rs1055407857
LAMA2
1.000 0.120 6 129492078 splice donor variant G/A snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1064797040
rs1064797040
LAMA2
1.000 0.120 6 129427751 splice acceptor variant G/A snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1064797327
rs1064797327
LAMA2
1.000 0.120 6 129149097 splice donor variant G/A;T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1131691660
rs1131691660
LAMA2
1.000 0.120 6 129353358 splice donor variant G/C;T snv 4.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs117422805
rs117422805
LAMA2
1.000 0.120 6 129280072 missense variant C/T snv 1.9E-03 1.7E-03
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1209130981
rs1209130981
LAMA2
1.000 0.120 6 129149008 frameshift variant AT/- del 2.8E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs121913577
rs121913577
LAMA2
1.000 0.120 6 129297729 stop gained C/A snv 8.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1246940477
rs1246940477
LAMA2
1.000 0.120 6 129353321 frameshift variant A/- delins 7.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1262029350
rs1262029350
LAMA2
1.000 0.120 6 129445822 splice donor variant G/C;T snv 4.0E-06 2.1E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1278823424
rs1278823424
LAMA2
1.000 0.120 6 129270623 splice acceptor variant G/A;T snv 8.0E-06 7.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1289855948
rs1289855948
LAMA2
1.000 0.120 6 129492394 stop gained G/T snv 4.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1296761337
rs1296761337
LAMA2
1.000 0.120 6 129143900 splice acceptor variant G/A;T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1326401124
rs1326401124
LAMA2
1.000 0.120 6 129165677 splice donor variant T/G snv 4.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1360796756
rs1360796756
LAMA2
1.000 0.120 6 128883351 stop gained C/G;T snv 4.7E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1374568851
rs1374568851
LAMA2
1.000 0.120 6 129165669 stop gained C/G;T snv 4.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1404492484
rs1404492484
LAMA2
1.000 0.120 6 129320656 splice donor variant G/A snv 4.0E-06 2.1E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
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: rs1554217494
rs1554217494
LAMA2
1.000 0.120 6 129098169 splice acceptor variant CTAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATG/- del
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1554226186
rs1554226186
LAMA2
1.000 0.120 6 129144081 splice donor variant G/A snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1554234051
rs1554234051
LAMA2
1.000 0.120 6 129177705 splice acceptor variant G/A snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
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: rs1554256965
rs1554256965
LAMA2
1.000 0.120 6 129252296 splice donor variant G/A snv
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: rs1554290316
rs1554290316
LAMA2
1.000 0.120 6 129403961 splice donor variant T/G snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
dbSNP: rs1554295204
rs1554295204
LAMA2
1.000 0.120 6 129427750 splice acceptor variant A/G snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0