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rs387906608

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906608(A;A)
Make rs387906608(A;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position46132118
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs387906608
ebirs387906608
HLIrs387906608
Exacrs387906608
Varsomers387906608
Maprs387906608
PheGenIrs387906608
hapmaprs387906608
1000 genomesrs387906608
hgdprs387906608
ensemblrs387906608
gopubmedrs387906608
geneviewrs387906608
scholarrs387906608
googlers387906608
pharmgkbrs387906608
gwascentralrs387906608
openSNPrs387906608
23andMers387906608
23andMe allrs387906608
SNP Nexus

SNPshotrs387906608
SNPdbers387906608
MSV3drs387906608
GWAS Ctlgrs387906608
Max Magnitude0
ClinVar
Risk rs387906608(A,T;A,T)
Alt rs387906608(A,T;A,T)
Reference rs387906608(C;C)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47552032C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022489.29,