Gene: LAMA2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913570
rs121913570
LAMA2
0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
dbSNP: rs121913570
rs121913570
LAMA2
0.800 GeneticVariation UNIPROT Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677

2015
dbSNP: rs121913570
rs121913570
LAMA2
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs886039896
rs886039896
LAMA2 ; LOC102723409
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121913570
rs121913570
LAMA2
0.800 GeneticVariation UNIPROT Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 12552556

2003
dbSNP: rs121913570
rs121913570
LAMA2
0.800 GeneticVariation UNIPROT Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 11591858

2001
dbSNP: rs121913570
rs121913570
LAMA2
C 0.800 CausalMutation CLINVAR

dbSNP: rs886039896
rs886039896
LAMA2 ; LOC102723409
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913573
rs121913573
LAMA2
0.700 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
dbSNP: rs121913574
rs121913574
LAMA2
0.700 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
dbSNP: rs758775001
rs758775001
LAMA2
T 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
dbSNP: rs771046502
rs771046502
LAMA2
C 0.700 GeneticVariation CLINVAR Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 28688748

2017
dbSNP: rs773209126
rs773209126
LAMA2
T 0.700 CausalMutation CLINVAR Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. 28182637

2017
dbSNP: rs121913575
rs121913575
LAMA2
T 0.700 CausalMutation CLINVAR Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 27159402

2016
dbSNP: rs750731624
rs750731624
LAMA2
A 0.700 CausalMutation CLINVAR Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 27159402

2016
dbSNP: rs1018100729
rs1018100729
LAMA2
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1180309541
rs1180309541
LAMA2
T 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677

2015
dbSNP: rs1211739649
rs1211739649
LAMA2
G 0.700 GeneticVariation CLINVAR LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 25663498

2015
dbSNP: rs121913569
rs121913569
LAMA2
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs121913572
rs121913572
LAMA2
T 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677

2015
dbSNP: rs121913573
rs121913573
LAMA2
0.700 GeneticVariation UNIPROT Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677

2015
dbSNP: rs121913574
rs121913574
LAMA2
0.700 GeneticVariation UNIPROT Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677

2015
dbSNP: rs121913576
rs121913576
LAMA2
T 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677

2015
dbSNP: rs1441933780
rs1441933780
LAMA2
A 0.700 GeneticVariation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677

2015
dbSNP: rs1554278541
rs1554278541
LAMA2
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015