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

rs398123643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123643(A;A)
Make rs398123643(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45989626
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs398123643
ebirs398123643
HLIrs398123643
Exacrs398123643
Varsomers398123643
Maprs398123643
PheGenIrs398123643
hapmaprs398123643
1000 genomesrs398123643
hgdprs398123643
ensemblrs398123643
gopubmedrs398123643
geneviewrs398123643
scholarrs398123643
googlers398123643
pharmgkbrs398123643
gwascentralrs398123643
openSNPrs398123643
23andMers398123643
23andMe allrs398123643
SNP Nexus

SNPshotrs398123643
SNPdbers398123643
MSV3drs398123643
GWAS Ctlgrs398123643
Max Magnitude0
ClinVar
Risk rs398123643(A;A)
Alt rs398123643(A;A)
Reference rs398123643(G;G)
Significance Probable-Pathogenic
Disease not provided Ullrich congenital muscular dystrophy Bethlem myopathy
Variation info
Gene COL6A1
CLNDBN not provided Ullrich congenital muscular dystrophy Bethlem myopathy
Reversed 0
HGVS NC_000021.8:g.47409540G>A
CLNSRC HGMD
CLNACC RCV000079834.3, RCV000173743.1, RCV000173744.1,