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rs267606747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606747(C;C)
Make rs267606747(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46126144
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs267606747
ebirs267606747
HLIrs267606747
Exacrs267606747
Varsomers267606747
Maprs267606747
PheGenIrs267606747
hapmaprs267606747
1000 genomesrs267606747
hgdprs267606747
ensemblrs267606747
gopubmedrs267606747
geneviewrs267606747
scholarrs267606747
googlers267606747
pharmgkbrs267606747
gwascentralrs267606747
openSNPrs267606747
23andMers267606747
23andMe allrs267606747
SNP Nexus

SNPshotrs267606747
SNPdbers267606747
MSV3drs267606747
GWAS Ctlgrs267606747
Max Magnitude0
ClinVar
Risk rs267606747(C;C)
Alt rs267606747(C;C)
Reference rs267606747(T;T)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47546058T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018706.28,