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rs58048078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs58048078(A;A)
Make rs58048078(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156134942
GeneLMNA
is asnp
is mentioned by
dbSNPrs58048078
ebirs58048078
HLIrs58048078
Exacrs58048078
Varsomers58048078
Maprs58048078
PheGenIrs58048078
hapmaprs58048078
1000 genomesrs58048078
hgdprs58048078
ensemblrs58048078
gopubmedrs58048078
geneviewrs58048078
scholarrs58048078
googlers58048078
pharmgkbrs58048078
gwascentralrs58048078
openSNPrs58048078
23andMers58048078
23andMe allrs58048078
SNP Nexus

SNPshotrs58048078
SNPdbers58048078
MSV3drs58048078
GWAS Ctlgrs58048078
Max Magnitude0
OMIM150330
Desc
Variant0035
Relatedalso


ClinVar
Risk rs58048078(A;A)
Alt rs58048078(A;A)
Reference rs58048078(T;T)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene LMNA
CLNDBN Limb-girdle muscular dystrophy, type 1B not provided
Reversed 0
HGVS NC_000001.10:g.156104733T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015605.22, RCV000057457.2,