Gene: LAMA2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039896
rs886039896
LAMA2 ; LOC102723409
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs886039896
rs886039896
LAMA2 ; LOC102723409
A 0.800 CausalMutation CLINVAR

dbSNP: rs1554319117
rs1554319117
LAMA2 ; LOC102723409
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554320205
rs1554320205
LAMA2 ; LOC102723409
CA 0.700 GeneticVariation CLINVAR

dbSNP: rs1554320318
rs1554320318
LAMA2 ; LOC102723409
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554321125
rs1554321125
LAMA2 ; LOC102723409
G 0.700 GeneticVariation CLINVAR

dbSNP: rs369224209
rs369224209
LAMA2 ; LOC102723409
G 0.700 GeneticVariation CLINVAR

dbSNP: rs749797580
rs749797580
LAMA2 ; LOC102723409
T 0.700 GeneticVariation CLINVAR The crystal structure of a laminin G-like module reveals the molecular basis of alpha-dystroglycan binding to laminins, perlecan, and agrin. 10619025

1999
dbSNP: rs749797580
rs749797580
LAMA2 ; LOC102723409
T 0.700 GeneticVariation CLINVAR Structure of the C-terminal laminin G-like domain pair of the laminin alpha2 chain harbouring binding sites for alpha-dystroglycan and heparin. 10747011

2000
dbSNP: rs749797580
rs749797580
LAMA2 ; LOC102723409
T 0.700 GeneticVariation CLINVAR Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins. 10022829

1999
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 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 Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121913570
rs121913570
LAMA2
C 0.800 CausalMutation CLINVAR

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

2001
dbSNP: rs1018100729
rs1018100729
LAMA2
T 0.700 GeneticVariation CLINVAR LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 16216942

2005
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: rs1055407857
rs1055407857
LAMA2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064797040
rs1064797040
LAMA2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064797327
rs1064797327
LAMA2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691660
rs1131691660
LAMA2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691660
rs1131691660
LAMA2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs117422805
rs117422805
LAMA2
0.700 GeneticVariation UNIPROT

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

2015