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rs797044456

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797044456(C;C)
Make rs797044456(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position45990828
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs797044456
ebirs797044456
HLIrs797044456
Exacrs797044456
Varsomers797044456
Maprs797044456
PheGenIrs797044456
hapmaprs797044456
1000 genomesrs797044456
hgdprs797044456
ensemblrs797044456
gopubmedrs797044456
geneviewrs797044456
scholarrs797044456
googlers797044456
pharmgkbrs797044456
gwascentralrs797044456
openSNPrs797044456
23andMers797044456
23andMe allrs797044456
SNP Nexus

SNPshotrs797044456
SNPdbers797044456
MSV3drs797044456
GWAS Ctlgrs797044456
Max Magnitude0
ClinVar
Risk rs797044456(C;C)
Alt rs797044456(C;C)
Reference rs797044456(T;T)
Significance Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A1
CLNDBN Bethlem myopathy
Reversed 0
HGVS NC_000021.8:g.47410742T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018711.25,