Variant: rs1018100729 

    present in Gene: LAMA2
    present in Chromosome: 6
    Position on Chromosome: 129050088
    Alleles of this Variant: C/T

rs1018100729 in LAMA2 gene and Muscular dystrophy congenital, merosin negative PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 16216942 2005 LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.