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rs398123375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123375(A;A)
Make rs398123375(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position129349385
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123375
ebirs398123375
HLIrs398123375
Exacrs398123375
Varsomers398123375
Maprs398123375
PheGenIrs398123375
hapmaprs398123375
1000 genomesrs398123375
hgdprs398123375
ensemblrs398123375
gopubmedrs398123375
geneviewrs398123375
scholarrs398123375
googlers398123375
pharmgkbrs398123375
gwascentralrs398123375
openSNPrs398123375
23andMers398123375
23andMe allrs398123375
SNP Nexus

SNPshotrs398123375
SNPdbers398123375
MSV3drs398123375
GWAS Ctlgrs398123375
Max Magnitude0
ClinVar
Risk rs398123375(A;A)
Alt rs398123375(A;A)
Reference rs398123375(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.129670530G>A
CLNSRC ClinVar
CLNACC RCV000078772.3, RCV000177512.1,