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rs202247790

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs202247790(-;-)
Make rs202247790(-;AG)
ReferenceGRCh38 38.1/141
Chromosome6
Position129252248
GeneLAMA2
is asnp
is mentioned by
dbSNPrs202247790
ebirs202247790
HLIrs202247790
Exacrs202247790
Varsomers202247790
Maprs202247790
PheGenIrs202247790
hapmaprs202247790
1000 genomesrs202247790
hgdprs202247790
ensemblrs202247790
gopubmedrs202247790
geneviewrs202247790
scholarrs202247790
googlers202247790
pharmgkbrs202247790
gwascentralrs202247790
openSNPrs202247790
23andMers202247790
23andMe allrs202247790
SNP Nexus

SNPshotrs202247790
SNPdbers202247790
MSV3drs202247790
GWAS Ctlgrs202247790
Max Magnitude0
ClinVar
Risk rs202247790(;)
Alt rs202247790(;)
Reference rs202247790(AG;AG)
Significance Pathogenic
Disease Merosin deficient congenital muscular dystrophy not provided not specified
Variation info
Gene LAMA2
CLNDBN Merosin deficient congenital muscular dystrophy not provided not specified
Reversed 0
HGVS NC_000006.11:g.129573393_129573394delAG
CLNSRC HGMD
CLNACC RCV000031899.2, RCV000078754.3, RCV000200517.1, RCV000230453.1,