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rs727502835

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502835(A;A)
Make rs727502835(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46132000
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs727502835
ebirs727502835
HLIrs727502835
Exacrs727502835
Varsomers727502835
Maprs727502835
PheGenIrs727502835
hapmaprs727502835
1000 genomesrs727502835
hgdprs727502835
ensemblrs727502835
gopubmedrs727502835
geneviewrs727502835
scholarrs727502835
googlers727502835
pharmgkbrs727502835
gwascentralrs727502835
openSNPrs727502835
23andMers727502835
23andMe allrs727502835
SNP Nexus

SNPshotrs727502835
SNPdbers727502835
MSV3drs727502835
GWAS Ctlgrs727502835
Max Magnitude0
ClinVar
Risk rs727502835(A;A)
Alt rs727502835(A;A)
Reference rs727502835(C;C)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47551914C>A
CLNSRC
CLNACC RCV000149944.1,