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rs398123368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123368(G;T)
Make rs398123368(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129049989
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123368
ebirs398123368
HLIrs398123368
Exacrs398123368
Varsomers398123368
Maprs398123368
PheGenIrs398123368
hapmaprs398123368
1000 genomesrs398123368
hgdprs398123368
ensemblrs398123368
gopubmedrs398123368
geneviewrs398123368
scholarrs398123368
googlers398123368
pharmgkbrs398123368
gwascentralrs398123368
openSNPrs398123368
23andMers398123368
23andMe allrs398123368
SNP Nexus

SNPshotrs398123368
SNPdbers398123368
MSV3drs398123368
GWAS Ctlgrs398123368
Max Magnitude0
ClinVar
Risk rs398123368(T;T)
Alt rs398123368(T;T)
Reference rs398123368(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.129371134G>T
CLNSRC ClinVar Emory University
CLNACC RCV000078751.3, RCV000175608.1,