Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749522728
rs749522728
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs749522728
rs749522728
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 20207543

2010
dbSNP: rs749522728
rs749522728
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		A 0.700 CausalMutation CLINVAR Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level. 17949279

2007
dbSNP: rs749522728
rs749522728
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		A 0.700 GeneticVariation CLINVAR