LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750731624
rs750731624
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		A 0.700 CausalMutation CLINVAR Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. 27159402 2016
dbSNP: rs1018100729
rs1018100729
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		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
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs1211739649
rs1211739649
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		G 0.700 GeneticVariation CLINVAR LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 25663498 2015
dbSNP: rs121913569
rs121913569
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		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
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs121913573
rs121913573
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		0.700 GeneticVariation UNIPROT Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs121913574
rs121913574
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		0.700 GeneticVariation UNIPROT Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs121913576
rs121913576
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs1441933780
rs1441933780
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		A 0.700 GeneticVariation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs1554278541
rs1554278541
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs1554286963
rs1554286963
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		C 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs186538779
rs186538779
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		C 0.700 GeneticVariation CLINVAR Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases. 27858741 2015
dbSNP: rs200288072
rs200288072
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs200669208
rs200669208
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs376088608
rs376088608
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 GeneticVariation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs398123371
rs398123371
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 GeneticVariation CLINVAR LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. 25663498 2015
dbSNP: rs535635043
rs535635043
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		A 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs553221833
rs553221833
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs747349942
rs747349942
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs747349942
rs747349942
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs749522728
rs749522728
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
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: rs756854513
rs756854513
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 CausalMutation CLINVAR Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. 24611677 2015
dbSNP: rs756854513
rs756854513
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs762806915
rs762806915
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C1263858
Disease:
Muscular dystrophy congenital, merosin negative 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015