rs58048078

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;T)	6.4	Emery-Dreifuss Muscular Dystrophy
(T;T)	0	common in clinvar

Make rs58048078(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156134942

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs58048078
dbSNP (classic)	rs58048078
ClinGen	rs58048078
ebi	rs58048078
HLI	rs58048078
Exac	rs58048078
Gnomad	rs58048078
Varsome	rs58048078
LitVar	rs58048078
Map	rs58048078
PheGenI	rs58048078
Biobank	rs58048078
1000 genomes	rs58048078
hgdp	rs58048078
ensembl	rs58048078
geneview	rs58048078
scholar	rs58048078
google	rs58048078
pharmgkb	rs58048078
gwascentral	rs58048078
openSNP	rs58048078
23andMe	rs58048078
SNPshot	rs58048078
SNPdbe	rs58048078
MSV3d	rs58048078
GWAS Ctlg	rs58048078

Max Magnitude

6.4

OMIM	150330
Desc
Variant	0035
Related	also

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,