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rs1042917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1042917(A;A)
Make rs1042917(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46125854
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs1042917
ebirs1042917
HLIrs1042917
Exacrs1042917
Varsomers1042917
Maprs1042917
PheGenIrs1042917
hapmaprs1042917
1000 genomesrs1042917
hgdprs1042917
ensemblrs1042917
gopubmedrs1042917
geneviewrs1042917
scholarrs1042917
googlers1042917
pharmgkbrs1042917
gwascentralrs1042917
openSNPrs1042917
23andMers1042917
23andMe allrs1042917
SNP Nexus

SNPshotrs1042917
SNPdbers1042917
MSV3drs1042917
GWAS Ctlgrs1042917
GMAF0.4421
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene COL6A2
allele A
frequency 0.426
sift TOLERATED
HuRef 1103643135584
Disease Association Defects in COL6A2 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.



[PMID 20466643] [Development of 3-enzyme pyrosequencing system and its application in rapid diagnosis of Down's syndrome].


GET Evidence
COL6A2-R680H
aa_change Arg680His
aa_change_short R680H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.41346
summary



ClinVar
Risk rs1042917(A;A)
Alt rs1042917(A;A)
Reference rs1042917(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene COL6A2
CLNDBN not specified
Reversed 0
HGVS NC_000021.8:g.47545768G>A
CLNSRC ClinVar Emory University
CLNACC RCV000079868.5,