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rs727502828

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502828(A;A)
Make rs727502828(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46116027
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs727502828
ebirs727502828
HLIrs727502828
Exacrs727502828
Varsomers727502828
Maprs727502828
PheGenIrs727502828
hapmaprs727502828
1000 genomesrs727502828
hgdprs727502828
ensemblrs727502828
gopubmedrs727502828
geneviewrs727502828
scholarrs727502828
googlers727502828
pharmgkbrs727502828
gwascentralrs727502828
openSNPrs727502828
23andMers727502828
23andMe allrs727502828
SNP Nexus

SNPshotrs727502828
SNPdbers727502828
MSV3drs727502828
GWAS Ctlgrs727502828
Max Magnitude0
ClinVar
Risk rs727502828(A;A)
Alt rs727502828(A;A)
Reference rs727502828(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47535941G>A
CLNSRC
CLNACC RCV000149927.1,