Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123391(A;A)
Make rs398123391(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position129516189
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123391
ebirs398123391
HLIrs398123391
Exacrs398123391
Varsomers398123391
Maprs398123391
PheGenIrs398123391
hapmaprs398123391
1000 genomesrs398123391
hgdprs398123391
ensemblrs398123391
gopubmedrs398123391
geneviewrs398123391
scholarrs398123391
googlers398123391
pharmgkbrs398123391
gwascentralrs398123391
openSNPrs398123391
23andMers398123391
23andMe allrs398123391
SNP Nexus

SNPshotrs398123391
SNPdbers398123391
MSV3drs398123391
GWAS Ctlgrs398123391
Max Magnitude0
ClinVar
Risk rs398123391(A;A)
Alt rs398123391(A;A)
Reference rs398123391(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.129837334G>A
CLNSRC ClinVar
CLNACC RCV000078808.3, RCV000179649.1,