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rs727502827

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502827(A;A)
Make rs727502827(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46116010
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs727502827
ebirs727502827
HLIrs727502827
Exacrs727502827
Varsomers727502827
Maprs727502827
PheGenIrs727502827
hapmaprs727502827
1000 genomesrs727502827
hgdprs727502827
ensemblrs727502827
gopubmedrs727502827
geneviewrs727502827
scholarrs727502827
googlers727502827
pharmgkbrs727502827
gwascentralrs727502827
openSNPrs727502827
23andMers727502827
23andMe allrs727502827
SNP Nexus

SNPshotrs727502827
SNPdbers727502827
MSV3drs727502827
GWAS Ctlgrs727502827
Max Magnitude0
ClinVar
Risk rs727502827(A;A)
Alt rs727502827(A;A)
Reference rs727502827(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47535924G>A
CLNSRC
CLNACC RCV000149926.1,