Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025562
rs869025562
Entrez Id: 55679
Gene Symbol: LIMS2
LIMS2
CUI: C4225192
Disease:
MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE 		0.800 GeneticVariation UNIPROT LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. 25589244 2015
dbSNP: rs869025562
rs869025562
Entrez Id: 55679
Gene Symbol: LIMS2
LIMS2
CUI: C4225192
Disease:
MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE 		G 0.800 CausalMutation CLINVAR
dbSNP: rs754385302
rs754385302
Entrez Id: 55679
Gene Symbol: LIMS2
LIMS2
CUI: C4225192
Disease:
MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE 		0.700 GeneticVariation UNIPROT LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. 25589244 2015
dbSNP: rs768056213
rs768056213
Entrez Id: 55679
Gene Symbol: LIMS2
LIMS2
CUI: C4225192
Disease:
MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE 		0.700 GeneticVariation UNIPROT