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rs202247792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs202247792(G;G)
Make rs202247792(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129486605
GeneLAMA2
is asnp
is mentioned by
dbSNPrs202247792
ebirs202247792
HLIrs202247792
Exacrs202247792
Varsomers202247792
Maprs202247792
PheGenIrs202247792
hapmaprs202247792
1000 genomesrs202247792
hgdprs202247792
ensemblrs202247792
gopubmedrs202247792
geneviewrs202247792
scholarrs202247792
googlers202247792
pharmgkbrs202247792
gwascentralrs202247792
openSNPrs202247792
23andMers202247792
23andMe allrs202247792
SNP Nexus

SNPshotrs202247792
SNPdbers202247792
MSV3drs202247792
GWAS Ctlgrs202247792
Max Magnitude0
ClinVar
Risk rs202247792(G;G)
Alt rs202247792(G;G)
Reference rs202247792(T;T)
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.129807750T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000031900.1,