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rs58932704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58932704(C;T)
Make rs58932704(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156136413
GeneLMNA
is asnp
is mentioned by
dbSNPrs58932704
dbSNP (classic)rs58932704
ClinGenrs58932704
ebirs58932704
HLIrs58932704
Exacrs58932704
Gnomadrs58932704
Varsomers58932704
LitVarrs58932704
Maprs58932704
PheGenIrs58932704
Biobankrs58932704
1000 genomesrs58932704
hgdprs58932704
ensemblrs58932704
geneviewrs58932704
scholarrs58932704
googlers58932704
pharmgkbrs58932704
gwascentralrs58932704
openSNPrs58932704
23andMers58932704
SNPshotrs58932704
SNPdbers58932704
MSV3drs58932704
GWAS Ctlgrs58932704
Max Magnitude0
OMIM150330
Desc
Variant0002
Relatedalso


ClinVar
Risk rs58932704(T;T)
Alt rs58932704(T;T)
Reference Rs58932704(C;C)
Significance Other
Disease Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided Limb-girdle muscular dystrophy Charcot-Marie-Tooth disease
Variation info
Gene LMNA
CLNDBN Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided Limb-girdle muscular dystrophy, type 1B Charcot-Marie-Tooth disease, type 2
Reversed 0
HGVS NC_000001.10:g.156106204C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015565.27, RCV000057273.3, RCV000230383.2, RCV000472112.1,