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rs267606749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606749(A;A)
Make rs267606749(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46121590
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs267606749
ebirs267606749
HLIrs267606749
Exacrs267606749
Varsomers267606749
Maprs267606749
PheGenIrs267606749
hapmaprs267606749
1000 genomesrs267606749
hgdprs267606749
ensemblrs267606749
gopubmedrs267606749
geneviewrs267606749
scholarrs267606749
googlers267606749
pharmgkbrs267606749
gwascentralrs267606749
openSNPrs267606749
23andMers267606749
23andMe allrs267606749
SNP Nexus

SNPshotrs267606749
SNPdbers267606749
MSV3drs267606749
GWAS Ctlgrs267606749
Max Magnitude0
ClinVar
Risk rs267606749(A;A)
Alt rs267606749(A;A)
Reference rs267606749(G;G)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47541504G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018708.28,