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rs121912937

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912937(C;G)
Make rs121912937(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46001981
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs121912937
ebirs121912937
HLIrs121912937
Exacrs121912937
Varsomers121912937
Maprs121912937
PheGenIrs121912937
hapmaprs121912937
1000 genomesrs121912937
hgdprs121912937
ensemblrs121912937
gopubmedrs121912937
geneviewrs121912937
scholarrs121912937
googlers121912937
pharmgkbrs121912937
gwascentralrs121912937
openSNPrs121912937
23andMers121912937
23andMe allrs121912937
SNP Nexus

SNPshotrs121912937
SNPdbers121912937
MSV3drs121912937
GWAS Ctlgrs121912937
Max Magnitude0
OMIM120220
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912937(G,T;G,T)
Alt rs121912937(G,T;G,T)
Reference rs121912937(C;C)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy
Variation info
Gene COL6A1
CLNDBN Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47421895C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018719.25,