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rs587777302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777302(C;T)
Make rs587777302(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position139307875
GeneMATR3
is asnp
is mentioned by
dbSNPrs587777302
ebirs587777302
HLIrs587777302
Exacrs587777302
Varsomers587777302
Maprs587777302
PheGenIrs587777302
hapmaprs587777302
1000 genomesrs587777302
hgdprs587777302
ensemblrs587777302
gopubmedrs587777302
geneviewrs587777302
scholarrs587777302
googlers587777302
pharmgkbrs587777302
gwascentralrs587777302
openSNPrs587777302
23andMers587777302
23andMe allrs587777302
SNP Nexus

SNPshotrs587777302
SNPdbers587777302
MSV3drs587777302
GWAS Ctlgrs587777302
Max Magnitude0
ClinVar
Risk rs587777302(T;T)
Alt rs587777302(T;T)
Reference rs587777302(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MATR3
CLNDBN Myopathy, distal, 2
Reversed 0
HGVS NC_000005.9:g.138643564C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000114432.3,