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rs267606748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606748(A;A)
Make rs267606748(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46115917
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs267606748
ebirs267606748
HLIrs267606748
Exacrs267606748
Varsomers267606748
Maprs267606748
PheGenIrs267606748
hapmaprs267606748
1000 genomesrs267606748
hgdprs267606748
ensemblrs267606748
gopubmedrs267606748
geneviewrs267606748
scholarrs267606748
googlers267606748
pharmgkbrs267606748
gwascentralrs267606748
openSNPrs267606748
23andMers267606748
23andMe allrs267606748
SNP Nexus

SNPshotrs267606748
SNPdbers267606748
MSV3drs267606748
GWAS Ctlgrs267606748
Max Magnitude0
ClinVar
Risk rs267606748(A;A)
Alt rs267606748(A;A)
Reference rs267606748(G;G)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy 1
Variation info
Gene COL6A2
CLNDBN Ullrich congenital muscular dystrophy 1, autosomal dominant
Reversed 0
HGVS NC_000021.8:g.47535831G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018707.28,