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rs1131296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1131296(C;T)
Make rs1131296(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position237334649
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs1131296
dbSNP (old)rs1131296
ClinGenrs1131296
ebirs1131296
HLIrs1131296
Exacrs1131296
Gnomadrs1131296
Varsomers1131296
LitVarrs1131296
Maprs1131296
PheGenIrs1131296
Biobankrs1131296
1000 genomesrs1131296
hgdprs1131296
ensemblrs1131296
gopubmedrs1131296
geneviewrs1131296
scholarrs1131296
googlers1131296
pharmgkbrs1131296
gwascentralrs1131296
openSNPrs1131296
23andMers1131296
23andMe allrs1131296
SNPshotrs1131296
SNPdbers1131296
MSV3drs1131296
GWAS Ctlgrs1131296
GMAF0.3792
Max Magnitude0
? (C;C) (C;T) (T;T) 28




ClinVar
Risk rs1131296(T;T)
Alt rs1131296(T;T)
Reference Rs1131296(C;C)
Significance Non-pathogenic
Disease not specified Collagen VI-related myopathy
Variation info
Gene COL6A3
CLNDBN not specified Collagen VI-related myopathy
Reversed 1
HGVS NC_000002.11:g.238243292G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000081023.7, RCV000365788.1,