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rs121912936

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912936(A;G)
Make rs121912936(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45984403
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs121912936
ebirs121912936
HLIrs121912936
Exacrs121912936
Varsomers121912936
Maprs121912936
PheGenIrs121912936
hapmaprs121912936
1000 genomesrs121912936
hgdprs121912936
ensemblrs121912936
gopubmedrs121912936
geneviewrs121912936
scholarrs121912936
googlers121912936
pharmgkbrs121912936
gwascentralrs121912936
openSNPrs121912936
23andMers121912936
23andMe allrs121912936
SNP Nexus

SNPshotrs121912936
SNPdbers121912936
MSV3drs121912936
GWAS Ctlgrs121912936
Max Magnitude0
OMIM120220
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912936(G;G)
Alt rs121912936(G;G)
Reference rs121912936(A;A)
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.47404317A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000018713.29, RCV000079810.3, RCV000177135.1,