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rs786204779

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204779(A;G)
Make rs786204779(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position129402322
GeneLAMA2
is asnp
is mentioned by
dbSNPrs786204779
ebirs786204779
HLIrs786204779
Exacrs786204779
Varsomers786204779
Maprs786204779
PheGenIrs786204779
hapmaprs786204779
1000 genomesrs786204779
hgdprs786204779
ensemblrs786204779
gopubmedrs786204779
geneviewrs786204779
scholarrs786204779
googlers786204779
pharmgkbrs786204779
gwascentralrs786204779
openSNPrs786204779
23andMers786204779
23andMe allrs786204779
SNP Nexus

SNPshotrs786204779
SNPdbers786204779
MSV3drs786204779
GWAS Ctlgrs786204779
Max Magnitude0
ClinVar
Risk rs786204779(G;G)
Alt rs786204779(G;G)
Reference rs786204779(A;A)
Significance Probable-Pathogenic
Disease Merosin deficient congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN Merosin deficient congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129723467A>G
CLNSRC
CLNACC RCV000169663.1,