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rs535661345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs535661345(C;T)
Make rs535661345(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position237372173
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs535661345
dbSNP (old)rs535661345
ClinGenrs535661345
ebirs535661345
HLIrs535661345
Exacrs535661345
Gnomadrs535661345
Varsomers535661345
LitVarrs535661345
Maprs535661345
PheGenIrs535661345
Biobankrs535661345
1000 genomesrs535661345
hgdprs535661345
ensemblrs535661345
gopubmedrs535661345
geneviewrs535661345
scholarrs535661345
googlers535661345
pharmgkbrs535661345
gwascentralrs535661345
openSNPrs535661345
23andMers535661345
23andMe allrs535661345
SNPshotrs535661345
SNPdbers535661345
MSV3drs535661345
GWAS Ctlgrs535661345
Max Magnitude0
ClinVar
Risk rs535661345(T;T)
Alt rs535661345(T;T)
Reference Rs535661345(C;C)
Significance Probable-Pathogenic
Disease Bethlem myopathy 1 Collagen VI-related myopathy
Variation info
Gene COL6A3
CLNDBN Bethlem myopathy 1 Collagen VI-related myopathy
Reversed 0
HGVS NC_000002.11:g.238280816C>T
CLNSRC Illumina
CLNACC RCV000256486.1, RCV000291174.1,