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rs771046502

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs771046502(C;C)
Make rs771046502(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position129401345
GeneLAMA2
is asnp
is mentioned by
dbSNPrs771046502
ebirs771046502
HLIrs771046502
Exacrs771046502
Varsomers771046502
Maprs771046502
PheGenIrs771046502
hapmaprs771046502
1000 genomesrs771046502
hgdprs771046502
ensemblrs771046502
gopubmedrs771046502
geneviewrs771046502
scholarrs771046502
googlers771046502
pharmgkbrs771046502
gwascentralrs771046502
openSNPrs771046502
23andMers771046502
23andMe allrs771046502
SNP Nexus

SNPshotrs771046502
SNPdbers771046502
MSV3drs771046502
GWAS Ctlgrs771046502
Max Magnitude0
ClinVar
Risk rs771046502(C;C)
Alt rs771046502(C;C)
Reference rs771046502(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.129722490G>C
CLNSRC
CLNACC RCV000177930.1,