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rs201093313

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201093313(C;T)
Make rs201093313(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position45989100
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs201093313
ebirs201093313
HLIrs201093313
Exacrs201093313
Varsomers201093313
Maprs201093313
PheGenIrs201093313
hapmaprs201093313
1000 genomesrs201093313
hgdprs201093313
ensemblrs201093313
gopubmedrs201093313
geneviewrs201093313
scholarrs201093313
googlers201093313
pharmgkbrs201093313
gwascentralrs201093313
openSNPrs201093313
23andMers201093313
23andMe allrs201093313
SNP Nexus

SNPshotrs201093313
SNPdbers201093313
MSV3drs201093313
GWAS Ctlgrs201093313
Max Magnitude0
ClinVar
Risk rs201093313(T;T)
Alt rs201093313(T;T)
Reference rs201093313(C;C)
Significance Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A1
CLNDBN Bethlem myopathy
Reversed 0
HGVS NC_000021.8:g.47409014C>T
CLNSRC
CLNACC RCV000184024.2,