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

rs398123644

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123644(A;A)
Make rs398123644(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45989645
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs398123644
ebirs398123644
HLIrs398123644
Exacrs398123644
Varsomers398123644
Maprs398123644
PheGenIrs398123644
hapmaprs398123644
1000 genomesrs398123644
hgdprs398123644
ensemblrs398123644
gopubmedrs398123644
geneviewrs398123644
scholarrs398123644
googlers398123644
pharmgkbrs398123644
gwascentralrs398123644
openSNPrs398123644
23andMers398123644
23andMe allrs398123644
SNP Nexus

SNPshotrs398123644
SNPdbers398123644
MSV3drs398123644
GWAS Ctlgrs398123644
Max Magnitude0
ClinVar
Risk rs398123644(A;A)
Alt rs398123644(A;A)
Reference rs398123644(G;G)
Significance Probable-Pathogenic
Disease not provided Bethlem myopathy Ullrich congenital muscular dystrophy
Variation info
Gene COL6A1
CLNDBN not provided Bethlem myopathy Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47409559G>A
CLNSRC ClinVar Emory University
CLNACC RCV000079835.3, RCV000173745.1, RCV000173746.1,