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rs863224891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224891(G;T)
Make rs863224891(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position129098299
GeneLAMA2
is asnp
is mentioned by
dbSNPrs863224891
dbSNP (classic)rs863224891
ClinGenrs863224891
ebirs863224891
HLIrs863224891
Exacrs863224891
Gnomadrs863224891
Varsomers863224891
LitVarrs863224891
Maprs863224891
PheGenIrs863224891
Biobankrs863224891
1000 genomesrs863224891
hgdprs863224891
ensemblrs863224891
geneviewrs863224891
scholarrs863224891
googlers863224891
pharmgkbrs863224891
gwascentralrs863224891
openSNPrs863224891
23andMers863224891
SNPshotrs863224891
SNPdbers863224891
MSV3drs863224891
GWAS Ctlgrs863224891
Max Magnitude0
ClinVar
Risk rs863224891(T;T)
Alt rs863224891(T;T)
Reference Rs863224891(G;G)
Significance Pathogenic
Disease Merosin deficient congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN Merosin deficient congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129419444G>T
CLNSRC
CLNACC RCV000200517.1,