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rs398123367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123367(A;A)
Make rs398123367(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position128883358
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123367
ebirs398123367
HLIrs398123367
Exacrs398123367
Varsomers398123367
Maprs398123367
PheGenIrs398123367
hapmaprs398123367
1000 genomesrs398123367
hgdprs398123367
ensemblrs398123367
gopubmedrs398123367
geneviewrs398123367
scholarrs398123367
googlers398123367
pharmgkbrs398123367
gwascentralrs398123367
openSNPrs398123367
23andMers398123367
23andMe allrs398123367
SNP Nexus

SNPshotrs398123367
SNPdbers398123367
MSV3drs398123367
GWAS Ctlgrs398123367
Max Magnitude0
ClinVar
Risk rs398123367(A;A)
Alt rs398123367(A;A)
Reference rs398123367(G;G)
Significance Pathogenic
Disease not provided Merosin deficient congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN not provided Merosin deficient congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129204503G>A
CLNSRC HGMD
CLNACC RCV000078745.3, RCV000173130.1,