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rs397515333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515333(A;A)
Make rs397515333(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46115873
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs397515333
ebirs397515333
HLIrs397515333
Exacrs397515333
Varsomers397515333
Maprs397515333
PheGenIrs397515333
hapmaprs397515333
1000 genomesrs397515333
hgdprs397515333
ensemblrs397515333
gopubmedrs397515333
geneviewrs397515333
scholarrs397515333
googlers397515333
pharmgkbrs397515333
gwascentralrs397515333
openSNPrs397515333
23andMers397515333
23andMe allrs397515333
SNP Nexus

SNPshotrs397515333
SNPdbers397515333
MSV3drs397515333
GWAS Ctlgrs397515333
Max Magnitude0
ClinVar
Risk rs397515333(A;A)
Alt rs397515333(A;A)
Reference rs397515333(G;G)
Significance Probable-Pathogenic
Disease not provided Bethlem myopathy Ullrich congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN not provided Bethlem myopathy Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47535787G>A
CLNSRC ClinVar Emory University
CLNACC RCV000050246.4, RCV000179388.1, RCV000179389.1,