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rs1053312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 0
(G;G) 0 common in clinvar


Make rs1053312(A;A)
ReferenceGRCh38 38.1/141
Chromosome21
Position46003475
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs1053312
ebirs1053312
HLIrs1053312
Exacrs1053312
Varsomers1053312
Maprs1053312
PheGenIrs1053312
hapmaprs1053312
1000 genomesrs1053312
hgdprs1053312
ensemblrs1053312
gopubmedrs1053312
geneviewrs1053312
scholarrs1053312
googlers1053312
pharmgkbrs1053312
gwascentralrs1053312
openSNPrs1053312
23andMers1053312
23andMe allrs1053312
SNP Nexus

SNPshotrs1053312
SNPdbers1053312
MSV3drs1053312
GWAS Ctlgrs1053312
GMAF0.2773
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene COL6A1
allele A
frequency 0.283
sift TOLERATED
HuRef 1103643135205
Disease Association Defects in COL6A1 are a cause of Bethlem myopathy (BM) (MIM:158810). BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.



[PMID 12958705OA-icon.png] Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.


GET Evidence
COL6A1-R850H
aa_change Arg850His
aa_change_short R850H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.341166
summary



ClinVar
Risk rs1053312(A;A)
Alt rs1053312(A;A)
Reference rs1053312(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene COL6A1
CLNDBN not specified
Reversed 0
HGVS NC_000021.8:g.47423389G>A
CLNSRC ClinVar Emory University
CLNACC RCV000079798.5,