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rs587777300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777300(G;G)
Make rs587777300(G;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position139307759
GeneMATR3
is asnp
is mentioned by
dbSNPrs587777300
ebirs587777300
HLIrs587777300
Exacrs587777300
Varsomers587777300
Maprs587777300
PheGenIrs587777300
hapmaprs587777300
1000 genomesrs587777300
hgdprs587777300
ensemblrs587777300
gopubmedrs587777300
geneviewrs587777300
scholarrs587777300
googlers587777300
pharmgkbrs587777300
gwascentralrs587777300
openSNPrs587777300
23andMers587777300
23andMe allrs587777300
SNP Nexus

SNPshotrs587777300
SNPdbers587777300
MSV3drs587777300
GWAS Ctlgrs587777300
Max Magnitude0
ClinVar
Risk rs587777300(G;G)
Alt rs587777300(G;G)
Reference rs587777300(T;T)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MATR3
CLNDBN Myopathy, distal, 2
Reversed 0
HGVS NC_000005.9:g.138643448T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000114430.3,