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rs541928674

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs541928674(C;T)
Make rs541928674(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position237344516
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs541928674
ebirs541928674
HLIrs541928674
Exacrs541928674
Varsomers541928674
Maprs541928674
PheGenIrs541928674
hapmaprs541928674
1000 genomesrs541928674
hgdprs541928674
ensemblrs541928674
gopubmedrs541928674
geneviewrs541928674
scholarrs541928674
googlers541928674
pharmgkbrs541928674
gwascentralrs541928674
openSNPrs541928674
23andMers541928674
23andMe allrs541928674
SNP Nexus

SNPshotrs541928674
SNPdbers541928674
MSV3drs541928674
GWAS Ctlgrs541928674
Max Magnitude0
ClinVar
Risk rs541928674(T;T)
Alt rs541928674(T;T)
Reference rs541928674(C;C)
Significance Pathogenic
Disease Dystonia 27
Variation info
Gene COL6A3
CLNDBN Dystonia 27
Reversed 0
HGVS NC_000002.11:g.238253159C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000172852.2,