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

rs398123383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123383(C;T)
Make rs398123383(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129460287
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123383
ebirs398123383
HLIrs398123383
Exacrs398123383
Varsomers398123383
Maprs398123383
PheGenIrs398123383
hapmaprs398123383
1000 genomesrs398123383
hgdprs398123383
ensemblrs398123383
gopubmedrs398123383
geneviewrs398123383
scholarrs398123383
googlers398123383
pharmgkbrs398123383
gwascentralrs398123383
openSNPrs398123383
23andMers398123383
23andMe allrs398123383
SNP Nexus

SNPshotrs398123383
SNPdbers398123383
MSV3drs398123383
GWAS Ctlgrs398123383
Max Magnitude0
ClinVar
Risk rs398123383(T;T)
Alt rs398123383(T;T)
Reference rs398123383(C;C)
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.129781432C>T
CLNSRC HGMD
CLNACC RCV000078791.3, RCV000178685.1,