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rs115650537

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs115650537(C;C)
Make rs115650537(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position129502696
GeneLAMA2, LOC102723409
is asnp
is mentioned by
dbSNPrs115650537
ebirs115650537
HLIrs115650537
Exacrs115650537
Varsomers115650537
Maprs115650537
PheGenIrs115650537
hapmaprs115650537
1000 genomesrs115650537
hgdprs115650537
ensemblrs115650537
gopubmedrs115650537
geneviewrs115650537
scholarrs115650537
googlers115650537
pharmgkbrs115650537
gwascentralrs115650537
openSNPrs115650537
23andMers115650537
23andMe allrs115650537
SNP Nexus

SNPshotrs115650537
SNPdbers115650537
MSV3drs115650537
GWAS Ctlgrs115650537
Max Magnitude0
ClinVar
Risk rs115650537(C;C)
Alt rs115650537(C;C)
Reference rs115650537(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.129823841T>C
CLNSRC
CLNACC RCV000170437.1,