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rs9492297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs9492297(A;A)
Make rs9492297(A;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position129291613
GeneLAMA2
is asnp
is mentioned by
dbSNPrs9492297
dbSNP (classic)rs9492297
ClinGenrs9492297
ebirs9492297
HLIrs9492297
Exacrs9492297
Gnomadrs9492297
Varsomers9492297
LitVarrs9492297
Maprs9492297
PheGenIrs9492297
Biobankrs9492297
1000 genomesrs9492297
hgdprs9492297
ensemblrs9492297
geneviewrs9492297
scholarrs9492297
googlers9492297
pharmgkbrs9492297
gwascentralrs9492297
openSNPrs9492297
23andMers9492297
SNPshotrs9492297
SNPdbers9492297
MSV3drs9492297
GWAS Ctlgrs9492297
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs9492297(A;A) rs9492297(C;C)
Alt rs9492297(A;A) rs9492297(C;C)
Reference Rs9492297(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.129612758G>C
CLNSRC HGMD
CLNACC RCV000078757.3, RCV000176037.1,