rs267607540

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GAA)	6.4	Emery-Dreifuss Muscular Dystrophy
(AAG;AAG)	0	common in clinvar
(AGA;AGA)	0	common in clinvar
(I;I)	0	common genotype

Make rs267607540(-;-)

Make rs267607540(-;AAG)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

156134511

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs267607540
dbSNP (classic)	rs267607540
ClinGen	rs267607540
ebi	rs267607540
HLI	rs267607540
Exac	rs267607540
Gnomad	rs267607540
Varsome	rs267607540
LitVar	rs267607540
Map	rs267607540
PheGenI	rs267607540
Biobank	rs267607540
1000 genomes	rs267607540
hgdp	rs267607540
ensembl	rs267607540
geneview	rs267607540
scholar	rs267607540
google	rs267607540
pharmgkb	rs267607540
gwascentral	rs267607540
openSNP	rs267607540
23andMe	rs267607540
SNPshot	rs267607540
SNPdbe	rs267607540
MSV3d	rs267607540
GWAS Ctlg	rs267607540

Merged from

Rs267607551

Max Magnitude

6.4

ClinVar
Risk	rs267607540(-;-) rs267607540(GAA;GAA)
Alt	rs267607540(-;-) rs267607540(GAA;GAA)
Reference	Rs267607540(AAG;AAG)
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.156104304_156104306delGAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015588.26, RCV000057433.2,