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rs398123631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123631(A;A)
Make rs398123631(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45990827
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs398123631
ebirs398123631
HLIrs398123631
Exacrs398123631
Varsomers398123631
Maprs398123631
PheGenIrs398123631
hapmaprs398123631
1000 genomesrs398123631
hgdprs398123631
ensemblrs398123631
gopubmedrs398123631
geneviewrs398123631
scholarrs398123631
googlers398123631
pharmgkbrs398123631
gwascentralrs398123631
openSNPrs398123631
23andMers398123631
23andMe allrs398123631
SNP Nexus

SNPshotrs398123631
SNPdbers398123631
MSV3drs398123631
GWAS Ctlgrs398123631
Max Magnitude0
ClinVar
Risk rs398123631(A;A)
Alt rs398123631(A;A)
Reference rs398123631(G;G)
Significance Pathogenic
Disease Bethlem myopathy not provided Ullrich congenital muscular dystrophy
Variation info
Gene COL6A1
CLNDBN Bethlem myopathy not provided Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47410741G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018714.30, RCV000079739.3, RCV000174722.1,