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rs202247791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs202247791(-;-)
Make rs202247791(-;ACGTGTTC)
Make rs202247791(ACGTGTTC;ACGTGTTC)
ReferenceGRCh38 38.1/141
Chromosome6
Position129250190
GeneLAMA2
is asnp
is mentioned by
dbSNPrs202247791
ebirs202247791
HLIrs202247791
Exacrs202247791
Varsomers202247791
Maprs202247791
PheGenIrs202247791
hapmaprs202247791
1000 genomesrs202247791
hgdprs202247791
ensemblrs202247791
gopubmedrs202247791
geneviewrs202247791
scholarrs202247791
googlers202247791
pharmgkbrs202247791
gwascentralrs202247791
openSNPrs202247791
23andMers202247791
23andMe allrs202247791
SNP Nexus

SNPshotrs202247791
SNPdbers202247791
MSV3drs202247791
GWAS Ctlgrs202247791
Max Magnitude0
ClinVar
Risk rs202247791(ACGTGTTC;ACGTGTTC)
Alt rs202247791(ACGTGTTC;ACGTGTTC)
Reference rs202247791(;)
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.129571328_129571335dupACGTGTTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000031898.1,