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rs727502833

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502833(A;A)
Make rs727502833(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46122117
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs727502833
ebirs727502833
HLIrs727502833
Exacrs727502833
Varsomers727502833
Maprs727502833
PheGenIrs727502833
hapmaprs727502833
1000 genomesrs727502833
hgdprs727502833
ensemblrs727502833
gopubmedrs727502833
geneviewrs727502833
scholarrs727502833
googlers727502833
pharmgkbrs727502833
gwascentralrs727502833
openSNPrs727502833
23andMers727502833
23andMe allrs727502833
SNP Nexus

SNPshotrs727502833
SNPdbers727502833
MSV3drs727502833
GWAS Ctlgrs727502833
Max Magnitude0
ClinVar
Risk rs727502833(A;A)
Alt rs727502833(A;A)
Reference rs727502833(G;G)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47542031G>A
CLNSRC
CLNACC RCV000149941.1,