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rs387906609

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906609(C;T)
Make rs387906609(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46117916
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs387906609
ebirs387906609
HLIrs387906609
Exacrs387906609
Varsomers387906609
Maprs387906609
PheGenIrs387906609
hapmaprs387906609
1000 genomesrs387906609
hgdprs387906609
ensemblrs387906609
gopubmedrs387906609
geneviewrs387906609
scholarrs387906609
googlers387906609
pharmgkbrs387906609
gwascentralrs387906609
openSNPrs387906609
23andMers387906609
23andMe allrs387906609
SNP Nexus

SNPshotrs387906609
SNPdbers387906609
MSV3drs387906609
GWAS Ctlgrs387906609
Max Magnitude0
ClinVar
Risk rs387906609(T;T)
Alt rs387906609(T;T)
Reference rs387906609(C;C)
Significance Pathogenic
Disease BETHLEM MYOPATHY 1
Variation info
Gene COL6A2
CLNDBN BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
Reversed 0
HGVS NC_000021.8:g.47537830C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022491.29,