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rs730880252

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880252(C;C)
Make rs730880252(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position128883277
GeneLAMA2
is asnp
is mentioned by
dbSNPrs730880252
ebirs730880252
HLIrs730880252
Exacrs730880252
Varsomers730880252
Maprs730880252
PheGenIrs730880252
hapmaprs730880252
1000 genomesrs730880252
hgdprs730880252
ensemblrs730880252
gopubmedrs730880252
geneviewrs730880252
scholarrs730880252
googlers730880252
pharmgkbrs730880252
gwascentralrs730880252
openSNPrs730880252
23andMers730880252
23andMe allrs730880252
SNP Nexus

SNPshotrs730880252
SNPdbers730880252
MSV3drs730880252
GWAS Ctlgrs730880252
Max Magnitude0
ClinVar
Risk rs730880252(C;C)
Alt rs730880252(C;C)
Reference rs730880252(T;T)
Significance Probable-Pathogenic
Disease Merosin deficient congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN Merosin deficient congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129204422T>C
CLNSRC
CLNACC RCV000157587.1,