rs61046466

Orientation

plus

Stabilized

plus

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

Make rs61046466(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156114934

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs61046466
dbSNP (classic)	rs61046466
ClinGen	rs61046466
ebi	rs61046466
HLI	rs61046466
Exac	rs61046466
Gnomad	rs61046466
Varsome	rs61046466
LitVar	rs61046466
Map	rs61046466
PheGenI	rs61046466
Biobank	rs61046466
1000 genomes	rs61046466
hgdp	rs61046466
ensembl	rs61046466
geneview	rs61046466
scholar	rs61046466
google	rs61046466
pharmgkb	rs61046466
gwascentral	rs61046466
openSNP	rs61046466
23andMe	rs61046466
SNPshot	rs61046466
SNPdbe	rs61046466
MSV3d	rs61046466
GWAS Ctlg	rs61046466

Max Magnitude

6.4

OMIM	150330
Desc
Variant	0001
Related	also

ClinVar
Risk	rs61046466(T;T)
Alt	rs61046466(T;T)
Reference	Rs61046466(C;C)
Significance	Pathogenic
Disease	Benign scapuloperoneal muscular dystrophy with cardiomyopathy Primary dilated cardiomyopathy not provided
Variation	info
Gene	LMNA
CLNDBN	Benign scapuloperoneal muscular dystrophy with cardiomyopathy Primary dilated cardiomyopathy not provided
Reversed	0
HGVS	NC_000001.10:g.156084725C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015564.22, RCV000041328.2, RCV000057350.1,

[PMID 10080180] Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.