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rs758124326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs758124326(C;T)
Make rs758124326(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position237361156
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs758124326
dbSNP (classic)rs758124326
ClinGenrs758124326
ebirs758124326
HLIrs758124326
Exacrs758124326
Gnomadrs758124326
Varsomers758124326
LitVarrs758124326
Maprs758124326
PheGenIrs758124326
Biobankrs758124326
1000 genomesrs758124326
hgdprs758124326
ensemblrs758124326
geneviewrs758124326
scholarrs758124326
googlers758124326
pharmgkbrs758124326
gwascentralrs758124326
openSNPrs758124326
23andMers758124326
SNPshotrs758124326
SNPdbers758124326
MSV3drs758124326
GWAS Ctlgrs758124326
Max Magnitude0
ClinVar
Risk rs758124326(A;A) rs758124326(T;T)
Alt rs758124326(A;A) rs758124326(T;T)
Reference Rs758124326(C;C)
Significance Pathogenic
Disease Bethlem myopathy 1
Variation info
Gene COL6A3
CLNDBN Bethlem myopathy 1
Reversed 0
HGVS NC_000002.11:g.238269799C>A
CLNSRC
CLNACC RCV000306136.1,