rs28928901

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs28928901(C;T)

Make rs28928901(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156134829

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs28928901
dbSNP (classic)	rs28928901
ClinGen	rs28928901
ebi	rs28928901
HLI	rs28928901
Exac	rs28928901
Gnomad	rs28928901
Varsome	rs28928901
LitVar	rs28928901
Map	rs28928901
PheGenI	rs28928901
Biobank	rs28928901
1000 genomes	rs28928901
hgdp	rs28928901
ensembl	rs28928901
geneview	rs28928901
scholar	rs28928901
google	rs28928901
pharmgkb	rs28928901
gwascentral	rs28928901
openSNP	rs28928901
23andMe	rs28928901
SNPshot	rs28928901
SNPdbe	rs28928901
MSV3d	rs28928901
GWAS Ctlg	rs28928901

Max Magnitude

0

OMIM	150330
Desc	EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
Variant	0014
Related	also

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 UniProtKB (protein)
CLNACC	RCV000015583.27, RCV000034133.2, RCV000057440.1,