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rs727502825

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727502825(A;G)
Make rs727502825(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46111981
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs727502825
ebirs727502825
HLIrs727502825
Exacrs727502825
Varsomers727502825
Maprs727502825
PheGenIrs727502825
hapmaprs727502825
1000 genomesrs727502825
hgdprs727502825
ensemblrs727502825
gopubmedrs727502825
geneviewrs727502825
scholarrs727502825
googlers727502825
pharmgkbrs727502825
gwascentralrs727502825
openSNPrs727502825
23andMers727502825
23andMe allrs727502825
SNP Nexus

SNPshotrs727502825
SNPdbers727502825
MSV3drs727502825
GWAS Ctlgrs727502825
Max Magnitude0
ClinVar
Risk rs727502825(G;G)
Alt rs727502825(G;G)
Reference rs727502825(A;A)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47531895A>G
CLNSRC
CLNACC RCV000149924.1,