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rs267606746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606746(A;A)
Make rs267606746(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45989120
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs267606746
ebirs267606746
HLIrs267606746
Exacrs267606746
Varsomers267606746
Maprs267606746
PheGenIrs267606746
hapmaprs267606746
1000 genomesrs267606746
hgdprs267606746
ensemblrs267606746
gopubmedrs267606746
geneviewrs267606746
scholarrs267606746
googlers267606746
pharmgkbrs267606746
gwascentralrs267606746
openSNPrs267606746
23andMers267606746
23andMe allrs267606746
SNP Nexus

SNPshotrs267606746
SNPdbers267606746
MSV3drs267606746
GWAS Ctlgrs267606746
Max Magnitude0
ClinVar
Risk rs267606746(A;A)
Alt rs267606746(A;A)
Reference rs267606746(G;G)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy
Variation info
Gene COL6A1
CLNDBN Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47409034G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018722.28,