Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893645
rs104893645
MATN3
T 0.810 CausalMutation CLINVAR

dbSNP: rs104893637
rs104893637
MATN3
A 0.800 CausalMutation CLINVAR

dbSNP: rs104893640
rs104893640
MATN3
T 0.800 CausalMutation CLINVAR

dbSNP: rs104893641
rs104893641
MATN3
G 0.800 CausalMutation CLINVAR

dbSNP: rs28939677
rs28939677
MATN3
T 0.800 CausalMutation CLINVAR

dbSNP: rs182164052
rs182164052
MATN3
0.700 GeneticVariation UNIPROT

dbSNP: rs749845872
rs749845872
MATN3
0.700 GeneticVariation UNIPROT

dbSNP: rs779413744
rs779413744
MATN3
0.700 GeneticVariation UNIPROT

dbSNP: rs104893645
rs104893645
MATN3
0.810 GeneticVariation UNIPROT Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 12884427

2003
dbSNP: rs104893637
rs104893637
MATN3
0.800 GeneticVariation UNIPROT Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 12884427

2003
dbSNP: rs104893640
rs104893640
MATN3
0.800 GeneticVariation UNIPROT Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 12884427

2003
dbSNP: rs104893641
rs104893641
MATN3
0.800 GeneticVariation UNIPROT Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 12884427

2003
dbSNP: rs28939677
rs28939677
MATN3
0.800 GeneticVariation UNIPROT Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 12884427

2003
dbSNP: rs397515546
rs397515546
MATN3
0.700 GeneticVariation UNIPROT Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 12884427

2003
dbSNP: rs773642745
rs773642745
MATN3
0.700 GeneticVariation UNIPROT Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 12884427

2003
dbSNP: rs104893645
rs104893645
MATN3
0.810 GeneticVariation BEFREE In order to dissect the role of XBP1 signalling in aggregation-related conditions we crossed a p.V194D Matn3 knock-in mouse model of EDM5 with a mouse line carrying a cartilage specific deletion of XBP1 and analysed the resulting phenotype. 31260448

2019
dbSNP: rs104893645
rs104893645
MATN3
0.810 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835

2004
dbSNP: rs104893637
rs104893637
MATN3
0.800 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835

2004
dbSNP: rs104893640
rs104893640
MATN3
0.800 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835

2004
dbSNP: rs104893641
rs104893641
MATN3
0.800 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835

2004
dbSNP: rs28939677
rs28939677
MATN3
0.800 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835

2004
dbSNP: rs397515546
rs397515546
MATN3
0.700 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835

2004
dbSNP: rs773642745
rs773642745
MATN3
0.700 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835

2004
dbSNP: rs104893645
rs104893645
MATN3
0.810 GeneticVariation UNIPROT Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 16287128

2005
dbSNP: rs104893637
rs104893637
MATN3
0.800 GeneticVariation UNIPROT Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 16287128

2005