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rs727502851

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502851(C;T)
Make rs727502851(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position129486612
GeneLAMA2
is asnp
is mentioned by
dbSNPrs727502851
ebirs727502851
HLIrs727502851
Exacrs727502851
Varsomers727502851
Maprs727502851
PheGenIrs727502851
hapmaprs727502851
1000 genomesrs727502851
hgdprs727502851
ensemblrs727502851
gopubmedrs727502851
geneviewrs727502851
scholarrs727502851
googlers727502851
pharmgkbrs727502851
gwascentralrs727502851
openSNPrs727502851
23andMers727502851
23andMe allrs727502851
SNP Nexus

SNPshotrs727502851
SNPdbers727502851
MSV3drs727502851
GWAS Ctlgrs727502851
Max Magnitude0
ClinVar
Risk rs727502851(T;T)
Alt rs727502851(T;T)
Reference rs727502851(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129807757C>T
CLNSRC
CLNACC RCV000149989.1,