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rs267606750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606750(A;A)
Make rs267606750(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46125509
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs267606750
ebirs267606750
HLIrs267606750
Exacrs267606750
Varsomers267606750
Maprs267606750
PheGenIrs267606750
hapmaprs267606750
1000 genomesrs267606750
hgdprs267606750
ensemblrs267606750
gopubmedrs267606750
geneviewrs267606750
scholarrs267606750
googlers267606750
pharmgkbrs267606750
gwascentralrs267606750
openSNPrs267606750
23andMers267606750
23andMe allrs267606750
SNP Nexus

SNPshotrs267606750
SNPdbers267606750
MSV3drs267606750
GWAS Ctlgrs267606750
Max Magnitude0
ClinVar
Risk rs267606750(A;A)
Alt rs267606750(A;A)
Reference rs267606750(G;G)
Significance Pathogenic
Disease Bethlem myopathy Congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Bethlem myopathy Congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47545423G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018699.28, RCV000149931.1,