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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
ebirs1131296
HLIrs1131296
Exacrs1131296
Varsomers1131296
Maprs1131296
PheGenIrs1131296
hapmaprs1131296
1000 genomesrs1131296
hgdprs1131296
ensemblrs1131296
gopubmedrs1131296
geneviewrs1131296
scholarrs1131296
googlers1131296
pharmgkbrs1131296
gwascentralrs1131296
openSNPrs1131296
23andMers1131296
23andMe allrs1131296
SNP Nexus

SNPshotrs1131296
SNPdbers1131296
MSV3drs1131296
GWAS Ctlgrs1131296
GMAF0.3792
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene COL6A3
allele A
frequency
sift TOLERATED
HuRef 1103658403527
Disease Association Defects in COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) (MIM:254090); also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.



Neighborrs2270669
Distance172


GET Evidence
COL6A3-T3069I
aa_change Thr3069Ile
aa_change_short T3069I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.361963
summary



ClinVar
Risk rs1131296(T;T)
Alt rs1131296(T;T)
Reference rs1131296(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene COL6A3
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.238243292G>A
CLNSRC ClinVar Emory University
CLNACC RCV000081023.5,