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rs398123377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTCATCT;CTCATCT) 0 common in clinvar
Make rs398123377(-;-)
Make rs398123377(-;CTCATCT)
ReferenceGRCh38 38.1/141
Chromosome6
Position129402467
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123377
ebirs398123377
HLIrs398123377
Exacrs398123377
Varsomers398123377
Maprs398123377
PheGenIrs398123377
hapmaprs398123377
1000 genomesrs398123377
hgdprs398123377
ensemblrs398123377
gopubmedrs398123377
geneviewrs398123377
scholarrs398123377
googlers398123377
pharmgkbrs398123377
gwascentralrs398123377
openSNPrs398123377
23andMers398123377
23andMe allrs398123377
SNP Nexus

SNPshotrs398123377
SNPdbers398123377
MSV3drs398123377
GWAS Ctlgrs398123377
Max Magnitude0
ClinVar
Risk rs398123377(;)
Alt rs398123377(;)
Reference rs398123377(CTCATCT;CTCATCT)
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.129723612_129723618delCTCATCT
CLNSRC ClinVar
CLNACC RCV000078781.3, RCV000177968.1,