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rs387906607

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906607(A;A)
Make rs387906607(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46125518
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs387906607
ebirs387906607
HLIrs387906607
Exacrs387906607
Varsomers387906607
Maprs387906607
PheGenIrs387906607
hapmaprs387906607
1000 genomesrs387906607
hgdprs387906607
ensemblrs387906607
gopubmedrs387906607
geneviewrs387906607
scholarrs387906607
googlers387906607
pharmgkbrs387906607
gwascentralrs387906607
openSNPrs387906607
23andMers387906607
23andMe allrs387906607
SNP Nexus

SNPshotrs387906607
SNPdbers387906607
MSV3drs387906607
GWAS Ctlgrs387906607
Max Magnitude0
ClinVar
Risk rs387906607(A;A)
Alt rs387906607(A;A)
Reference rs387906607(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.47545432G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022488.29,