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rs398123646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123646(A;A)
Make rs398123646(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46122107
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs398123646
ebirs398123646
HLIrs398123646
Exacrs398123646
Varsomers398123646
Maprs398123646
PheGenIrs398123646
hapmaprs398123646
1000 genomesrs398123646
hgdprs398123646
ensemblrs398123646
gopubmedrs398123646
geneviewrs398123646
scholarrs398123646
googlers398123646
pharmgkbrs398123646
gwascentralrs398123646
openSNPrs398123646
23andMers398123646
23andMe allrs398123646
SNP Nexus

SNPshotrs398123646
SNPdbers398123646
MSV3drs398123646
GWAS Ctlgrs398123646
Max Magnitude0
ClinVar
Risk rs398123646(A;A)
Alt rs398123646(A;A)
Reference rs398123646(G;G)
Significance 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.47542021G>A
CLNSRC ClinVar
CLNACC RCV000079848.3, RCV000175421.1, RCV000175422.1,