rs56699480

Orientation

plus

Stabilized

plus

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

Make rs56699480(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156137017

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs56699480
dbSNP (classic)	rs56699480
ClinGen	rs56699480
ebi	rs56699480
HLI	rs56699480
Exac	rs56699480
Gnomad	rs56699480
Varsome	rs56699480
LitVar	rs56699480
Map	rs56699480
PheGenI	rs56699480
Biobank	rs56699480
1000 genomes	rs56699480
hgdp	rs56699480
ensembl	rs56699480
geneview	rs56699480
scholar	rs56699480
google	rs56699480
pharmgkb	rs56699480
gwascentral	rs56699480
openSNP	rs56699480
23andMe	rs56699480
SNPshot	rs56699480
SNPdbe	rs56699480
MSV3d	rs56699480
GWAS Ctlg	rs56699480

Max Magnitude

6.4

OMIM	150330
Desc
Variant	0038
Related	also

ClinVar
Risk	rs56699480(T;T)
Alt	rs56699480(T;T)
Reference	Rs56699480(C;C)
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.156106808C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015609.22, RCV000057304.1,