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rs2270669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2270669(C;C)
Make rs2270669(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position237334821
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs2270669
ebirs2270669
HLIrs2270669
Exacrs2270669
Varsomers2270669
Maprs2270669
PheGenIrs2270669
hapmaprs2270669
1000 genomesrs2270669
hgdprs2270669
ensemblrs2270669
gopubmedrs2270669
geneviewrs2270669
scholarrs2270669
googlers2270669
pharmgkbrs2270669
gwascentralrs2270669
openSNPrs2270669
23andMers2270669
23andMe allrs2270669
SNP Nexus

SNPshotrs2270669
SNPdbers2270669
MSV3drs2270669
GWAS Ctlgrs2270669
GMAF0.1965
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene COL6A3
allele G
frequency 0.793
sift TOLERATED
HuRef 1103658403528
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.



Neighborrs1131296
Distance172


GET Evidence
COL6A3-A2405P
aa_change Ala2405Pro
aa_change_short A2405P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 23626599OA-icon.png] Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669


ClinVar
Risk rs2270669(C;C)
Alt rs2270669(C;C)
Reference rs2270669(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene COL6A3
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.238243464C>G
CLNSRC ClinVar Emory University
CLNACC RCV000081019.5,