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rs28928901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28928901(C;T)
Make rs28928901(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156134829
GeneLMNA
is asnp
is mentioned by
dbSNPrs28928901
ebirs28928901
HLIrs28928901
Exacrs28928901
Varsomers28928901
Maprs28928901
PheGenIrs28928901
hapmaprs28928901
1000 genomesrs28928901
hgdprs28928901
ensemblrs28928901
gopubmedrs28928901
geneviewrs28928901
scholarrs28928901
googlers28928901
pharmgkbrs28928901
gwascentralrs28928901
openSNPrs28928901
23andMers28928901
23andMe allrs28928901
SNP Nexus

SNPshotrs28928901
SNPdbers28928901
MSV3drs28928901
GWAS Ctlgrs28928901
Max Magnitude0
OMIM150330
DescEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
Variant0014
Relatedalso
Neighborrs28933092
Distance332


ClinVar
Risk rs28928901(T;T)
Alt rs28928901(T;T)
Reference rs28928901(C;C)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy 3 Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided
Variation info
Gene LMNA
CLNDBN Emery-Dreifuss muscular dystrophy 3, autosomal recessive Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided
Reversed 0
HGVS NC_000001.10:g.156104620C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015583.27, RCV000034133.2, RCV000057440.1,