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rs186538779

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs186538779(A;G)
Make rs186538779(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position129280071
GeneLAMA2
is asnp
is mentioned by
dbSNPrs186538779
ebirs186538779
HLIrs186538779
Exacrs186538779
Varsomers186538779
Maprs186538779
PheGenIrs186538779
hapmaprs186538779
1000 genomesrs186538779
hgdprs186538779
ensemblrs186538779
gopubmedrs186538779
geneviewrs186538779
scholarrs186538779
googlers186538779
pharmgkbrs186538779
gwascentralrs186538779
openSNPrs186538779
23andMers186538779
23andMe allrs186538779
SNP Nexus

SNPshotrs186538779
SNPdbers186538779
MSV3drs186538779
GWAS Ctlgrs186538779
Max Magnitude0
ClinVar
Risk rs186538779(C,G;C,G)
Alt rs186538779(C,G;C,G)
Reference rs186538779(A;A)
Significance Pathogenic
Disease Merosin deficient congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN Merosin deficient congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129601216A>C
CLNSRC
CLNACC RCV000170437.1,