Have questions? Visit https://www.reddit.com/r/SNPedia

rs878854362

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878854362(G;T)
Make rs878854362(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46116677
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs878854362
ebirs878854362
HLIrs878854362
Exacrs878854362
Varsomers878854362
Maprs878854362
PheGenIrs878854362
hapmaprs878854362
1000 genomesrs878854362
hgdprs878854362
ensemblrs878854362
gopubmedrs878854362
geneviewrs878854362
scholarrs878854362
googlers878854362
pharmgkbrs878854362
gwascentralrs878854362
openSNPrs878854362
23andMers878854362
23andMe allrs878854362
SNP Nexus

SNPshotrs878854362
SNPdbers878854362
MSV3drs878854362
GWAS Ctlgrs878854362
Max Magnitude0
ClinVar
Risk rs878854362(T;T)
Alt rs878854362(T;T)
Reference rs878854362(G;G)
Significance Probable-Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A2
CLNDBN Bethlem myopathy
Reversed 0
HGVS NC_000021.8:g.47536591G>T
CLNSRC
CLNACC RCV000230758.1,