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rs117725825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs117725825(C;T)
Make rs117725825(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46132287
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs117725825
ebirs117725825
HLIrs117725825
Exacrs117725825
Varsomers117725825
Maprs117725825
PheGenIrs117725825
hapmaprs117725825
1000 genomesrs117725825
hgdprs117725825
ensemblrs117725825
gopubmedrs117725825
geneviewrs117725825
scholarrs117725825
googlers117725825
pharmgkbrs117725825
gwascentralrs117725825
openSNPrs117725825
23andMers117725825
23andMe allrs117725825
SNP Nexus

SNPshotrs117725825
SNPdbers117725825
MSV3drs117725825
GWAS Ctlgrs117725825
Merged fromRs121912941
Max Magnitude0
OMIM120240
Desc
Variant0010
Relatedalso
ClinVar
Risk rs117725825(T;T)
Alt rs117725825(T;T)
Reference rs117725825(C;C)
Significance Pathogenic
Disease Bethlem myopathy not specified not provided
Variation info
Gene COL6A2
CLNDBN Bethlem myopathy not specified not provided
Reversed 0
HGVS NC_000021.8:g.47552201C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018704.28, RCV000149938.2, RCV000176858.1,