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rs727502832

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502832(G;T)
Make rs727502832(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46116387
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs727502832
ebirs727502832
HLIrs727502832
Exacrs727502832
Varsomers727502832
Maprs727502832
PheGenIrs727502832
hapmaprs727502832
1000 genomesrs727502832
hgdprs727502832
ensemblrs727502832
gopubmedrs727502832
geneviewrs727502832
scholarrs727502832
googlers727502832
pharmgkbrs727502832
gwascentralrs727502832
openSNPrs727502832
23andMers727502832
23andMe allrs727502832
SNP Nexus

SNPshotrs727502832
SNPdbers727502832
MSV3drs727502832
GWAS Ctlgrs727502832
Max Magnitude0
ClinVar
Risk rs727502832(T;T)
Alt rs727502832(T;T)
Reference rs727502832(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47536301G>T
CLNSRC
CLNACC RCV000149940.1,