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: rs374403765
rs374403765
LAMA2
1.000 0.120 6 128883247 start lost T/C snv 1.4E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 1 1998 1998
dbSNP: rs886061039
rs886061039
LAMA2
1.000 0.120 6 128883306 stop gained C/G;T snv
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: rs398123367
rs398123367
LAMA2
1.000 0.120 6 128883358 splice donor variant G/A snv 1.9E-05 7.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 1 2010 2010
dbSNP: rs191899712
rs191899712
LAMA2
1.000 0.120 6 129049954 missense variant C/T snv 4.0E-05 4.2E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 0
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: rs200288072
rs200288072
LAMA2
1.000 0.120 6 129050089 splice donor variant G/A snv 1.2E-05 2.1E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 2010 2015
dbSNP: rs1441933780
rs1441933780
LAMA2
1.000 0.120 6 129059829 stop gained G/A snv 8.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 1 2015 2015
dbSNP: rs535635043
rs535635043
LAMA2
1.000 0.120 6 129059863 stop gained C/A;T snv 8.0E-06; 4.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 2008 2015
dbSNP: rs770617208
rs770617208
LAMA2
1.000 0.120 6 129059897 splice donor variant G/T snv 2.4E-05 7.0E-06
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: rs553221833
rs553221833
LAMA2
1.000 0.120 6 129098274 stop gained G/A snv 4.0E-06
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 1998 2015
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: 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: rs886043648
rs886043648
LAMA2
1.000 0.120 6 129144078 stop gained A/T snv
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 1 2015 2015
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: rs1562275792
rs1562275792
LAMA2
1.000 0.120 6 129146964 frameshift variant C/- del
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: rs1554227092
rs1554227092
LAMA2
1.000 0.120 6 129149020 frameshift variant -/CT ins
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 1 1998 1998
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: rs1338860420
rs1338860420
LAMA2
1.000 0.120 6 129154599 frameshift variant A/- del
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 1 2014 2014
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: rs773209126
rs773209126
LAMA2
1.000 0.120 6 129165672 stop gained C/T snv 1.6E-05 1.4E-05
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		0.700 1.000 2 2010 2017
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: 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