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rs398123639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123639(A;G)
Make rs398123639(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45989082
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs398123639
ebirs398123639
HLIrs398123639
Exacrs398123639
Varsomers398123639
Maprs398123639
PheGenIrs398123639
hapmaprs398123639
1000 genomesrs398123639
hgdprs398123639
ensemblrs398123639
gopubmedrs398123639
geneviewrs398123639
scholarrs398123639
googlers398123639
pharmgkbrs398123639
gwascentralrs398123639
openSNPrs398123639
23andMers398123639
23andMe allrs398123639
SNP Nexus

SNPshotrs398123639
SNPdbers398123639
MSV3drs398123639
GWAS Ctlgrs398123639
Max Magnitude0
ClinVar
Risk rs398123639(G;G)
Alt rs398123639(G;G)
Reference rs398123639(A;A)
Significance 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.47408996A>G
CLNSRC ClinVar
CLNACC RCV000079826.3, RCV000180575.1, RCV000180576.1,