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rs759555791

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs759555791(A;A)
Make rs759555791(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position129288059
GeneLAMA2
is asnp
is mentioned by
dbSNPrs759555791
ebirs759555791
HLIrs759555791
Exacrs759555791
Varsomers759555791
Maprs759555791
PheGenIrs759555791
hapmaprs759555791
1000 genomesrs759555791
hgdprs759555791
ensemblrs759555791
gopubmedrs759555791
geneviewrs759555791
scholarrs759555791
googlers759555791
pharmgkbrs759555791
gwascentralrs759555791
openSNPrs759555791
23andMers759555791
23andMe allrs759555791
SNP Nexus

SNPshotrs759555791
SNPdbers759555791
MSV3drs759555791
GWAS Ctlgrs759555791
Max Magnitude0
ClinVar
Risk rs759555791(A;A)
Alt rs759555791(A;A)
Reference rs759555791(G;G)
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.129609204G>C
CLNSRC
CLNACC RCV000175397.1,