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rs201632009

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201632009(A;A)
Make rs201632009(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position129383212
GeneLAMA2
is asnp
is mentioned by
dbSNPrs201632009
dbSNP (classic)rs201632009
ClinGenrs201632009
ebirs201632009
HLIrs201632009
Exacrs201632009
Gnomadrs201632009
Varsomers201632009
LitVarrs201632009
Maprs201632009
PheGenIrs201632009
Biobankrs201632009
1000 genomesrs201632009
hgdprs201632009
ensemblrs201632009
geneviewrs201632009
scholarrs201632009
googlers201632009
pharmgkbrs201632009
gwascentralrs201632009
openSNPrs201632009
23andMers201632009
SNPshotrs201632009
SNPdbers201632009
MSV3drs201632009
GWAS Ctlgrs201632009
Max Magnitude0
ClinVar
Risk rs201632009(A;A) rs201632009(C;C) rs201632009(T;T)
Alt rs201632009(A;A) rs201632009(C;C) rs201632009(T;T)
Reference Rs201632009(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.129704357G>T
CLNSRC ClinVar Emory University
CLNACC RCV000078775.3, RCV000177827.2,