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rs794727594

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727594(-;-)
Make rs794727594(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position129393070
GeneLAMA2
is asnp
is mentioned by
dbSNPrs794727594
ebirs794727594
HLIrs794727594
Exacrs794727594
Varsomers794727594
Maprs794727594
PheGenIrs794727594
hapmaprs794727594
1000 genomesrs794727594
hgdprs794727594
ensemblrs794727594
gopubmedrs794727594
geneviewrs794727594
scholarrs794727594
googlers794727594
pharmgkbrs794727594
gwascentralrs794727594
openSNPrs794727594
23andMers794727594
23andMe allrs794727594
SNP Nexus

SNPshotrs794727594
SNPdbers794727594
MSV3drs794727594
GWAS Ctlgrs794727594
Max Magnitude0
ClinVar
Risk rs794727594(;)
Alt rs794727594(;)
Reference rs794727594(G;G)
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.129714215delG
CLNSRC
CLNACC RCV000177896.1,