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rs2839110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(G;G) 0 common in clinvar
Make rs2839110(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46119046
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs2839110
ebirs2839110
HLIrs2839110
Exacrs2839110
Varsomers2839110
Maprs2839110
PheGenIrs2839110
hapmaprs2839110
1000 genomesrs2839110
hgdprs2839110
ensemblrs2839110
gopubmedrs2839110
geneviewrs2839110
scholarrs2839110
googlers2839110
pharmgkbrs2839110
gwascentralrs2839110
openSNPrs2839110
23andMers2839110
23andMe allrs2839110
SNP Nexus

SNPshotrs2839110
SNPdbers2839110
MSV3drs2839110
GWAS Ctlgrs2839110
GMAF0.2094
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene COL6A2
allele A
frequency 0.814
sift TOLERATED
HuRef 1103643135570
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.



GET Evidence
COL6A2-S399N
aa_change Ser399Asn
aa_change_short S399N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.730411
summary



ClinVar
Risk rs2839110(A;A)
Alt rs2839110(A;A)
Reference rs2839110(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene COL6A2
CLNDBN not specified
Reversed 0
HGVS NC_000021.8:g.47538960G>A
CLNSRC ClinVar Emory University
CLNACC RCV000079842.5,