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rs121434591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434591(C;G)
Make rs121434591(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position139307669
GeneMATR3
is asnp
is mentioned by
dbSNPrs121434591
ebirs121434591
HLIrs121434591
Exacrs121434591
Varsomers121434591
Maprs121434591
PheGenIrs121434591
hapmaprs121434591
1000 genomesrs121434591
hgdprs121434591
ensemblrs121434591
gopubmedrs121434591
geneviewrs121434591
scholarrs121434591
googlers121434591
pharmgkbrs121434591
gwascentralrs121434591
openSNPrs121434591
23andMers121434591
23andMe allrs121434591
SNP Nexus

SNPshotrs121434591
SNPdbers121434591
MSV3drs121434591
GWAS Ctlgrs121434591
Max Magnitude0
OMIM164015
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434591(G;G)
Alt rs121434591(G;G)
Reference rs121434591(C;C)
Significance Other
Disease Myopathy
Variation info
Gene MATR3
CLNDBN Myopathy, distal, 2
Reversed 0
HGVS NC_000005.9:g.138643358C>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000015039.30,


[PMID 19344878OA-icon.png] Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.