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rs863224861

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224861(A;A)
Make rs863224861(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46125911
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs863224861
ebirs863224861
HLIrs863224861
Exacrs863224861
Varsomers863224861
Maprs863224861
PheGenIrs863224861
hapmaprs863224861
1000 genomesrs863224861
hgdprs863224861
ensemblrs863224861
gopubmedrs863224861
geneviewrs863224861
scholarrs863224861
googlers863224861
pharmgkbrs863224861
gwascentralrs863224861
openSNPrs863224861
23andMers863224861
23andMe allrs863224861
SNP Nexus

SNPshotrs863224861
SNPdbers863224861
MSV3drs863224861
GWAS Ctlgrs863224861
Max Magnitude0
ClinVar
Risk rs863224861(A;A)
Alt rs863224861(A;A)
Reference rs863224861(G;G)
Significance Probable-Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A2
CLNDBN Bethlem myopathy
Reversed 0
HGVS NC_000021.8:g.47545825G>A
CLNSRC
CLNACC RCV000197493.1,