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rs387906610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906610(A;A)
Make rs387906610(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46132103
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs387906610
ebirs387906610
HLIrs387906610
Exacrs387906610
Varsomers387906610
Maprs387906610
PheGenIrs387906610
hapmaprs387906610
1000 genomesrs387906610
hgdprs387906610
ensemblrs387906610
gopubmedrs387906610
geneviewrs387906610
scholarrs387906610
googlers387906610
pharmgkbrs387906610
gwascentralrs387906610
openSNPrs387906610
23andMers387906610
23andMe allrs387906610
SNP Nexus

SNPshotrs387906610
SNPdbers387906610
MSV3drs387906610
GWAS Ctlgrs387906610
Max Magnitude0
ClinVar
Risk rs387906610(A;A)
Alt rs387906610(A;A)
Reference rs387906610(G;G)
Significance Pathogenic
Disease BETHLEM MYOPATHY 1
Variation info
Gene COL6A2
CLNDBN BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
Reversed 0
HGVS NC_000021.8:g.47552017G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022492.28,