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rs797045479

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045479(C;T)
Make rs797045479(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position237361150
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs797045479
ebirs797045479
HLIrs797045479
Exacrs797045479
Varsomers797045479
Maprs797045479
PheGenIrs797045479
hapmaprs797045479
1000 genomesrs797045479
hgdprs797045479
ensemblrs797045479
gopubmedrs797045479
geneviewrs797045479
scholarrs797045479
googlers797045479
pharmgkbrs797045479
gwascentralrs797045479
openSNPrs797045479
23andMers797045479
23andMe allrs797045479
SNP Nexus

SNPshotrs797045479
SNPdbers797045479
MSV3drs797045479
GWAS Ctlgrs797045479
Max Magnitude0
ClinVar
Risk rs797045479(T;T)
Alt rs797045479(T;T)
Reference rs797045479(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene COL6A3
CLNDBN Myopathy
Reversed 1
HGVS NC_000002.11:g.238269793G>A
CLNSRC
CLNACC RCV000192833.1,