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

rs121913574

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913574(A;A)
Make rs121913574(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position129190317
GeneLAMA2
is asnp
is mentioned by
dbSNPrs121913574
ebirs121913574
HLIrs121913574
Exacrs121913574
Varsomers121913574
Maprs121913574
PheGenIrs121913574
hapmaprs121913574
1000 genomesrs121913574
hgdprs121913574
ensemblrs121913574
gopubmedrs121913574
geneviewrs121913574
scholarrs121913574
googlers121913574
pharmgkbrs121913574
gwascentralrs121913574
openSNPrs121913574
23andMers121913574
23andMe allrs121913574
SNP Nexus

SNPshotrs121913574
SNPdbers121913574
MSV3drs121913574
GWAS Ctlgrs121913574
Merged fromRs28933096
Max Magnitude0
OMIM156225
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121913574(A;A)
Alt rs121913574(A;A)
Reference rs121913574(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy due to partial LAMA2 deficiency not provided
Variation info
Gene LAMA2
CLNDBN Congenital muscular dystrophy due to partial LAMA2 deficiency not provided
Reversed 0
HGVS NC_000006.11:g.129511462G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000015368.25, RCV000078747.4,