Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1480934961
rs1480934961
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		CAAAG 0.700 CausalMutation CLINVAR Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy. 25124546

2014
dbSNP: rs1480934961
rs1480934961
LAMA2
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		CAAAG 0.700 CausalMutation CLINVAR LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 18700894

2008