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rs398123385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs398123385(-;-)
Make rs398123385(-;CT)
ReferenceGRCh38 38.1/141
Chromosome6
Position129465268
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123385
ebirs398123385
HLIrs398123385
Exacrs398123385
Varsomers398123385
Maprs398123385
PheGenIrs398123385
hapmaprs398123385
1000 genomesrs398123385
hgdprs398123385
ensemblrs398123385
gopubmedrs398123385
geneviewrs398123385
scholarrs398123385
googlers398123385
pharmgkbrs398123385
gwascentralrs398123385
openSNPrs398123385
23andMers398123385
23andMe allrs398123385
SNP Nexus

SNPshotrs398123385
SNPdbers398123385
MSV3drs398123385
GWAS Ctlgrs398123385
Max Magnitude0
ClinVar
Risk rs398123385(;)
Alt rs398123385(;)
Reference rs398123385(CT;CT)
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.129786413_129786414delCT
CLNSRC ClinVar
CLNACC RCV000078795.3, RCV000179084.1,