rs60458016

Orientation

plus

Stabilized

plus

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

Make rs60458016(A;A)

Make rs60458016(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156136036

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs60458016
dbSNP (classic)	rs60458016
ClinGen	rs60458016
ebi	rs60458016
HLI	rs60458016
Exac	rs60458016
Gnomad	rs60458016
Varsome	rs60458016
LitVar	rs60458016
Map	rs60458016
PheGenI	rs60458016
Biobank	rs60458016
1000 genomes	rs60458016
hgdp	rs60458016
ensembl	rs60458016
geneview	rs60458016
scholar	rs60458016
google	rs60458016
pharmgkb	rs60458016
gwascentral	rs60458016
openSNP	rs60458016
23andMe	rs60458016
SNPshot	rs60458016
SNPdbe	rs60458016
MSV3d	rs60458016
GWAS Ctlg	rs60458016

Max Magnitude

0

OMIM	150330
Desc
Variant	0049
Related	also

ClinVar
Risk	rs60458016(A;A) rs60458016(T;T)
Alt	rs60458016(A;A) rs60458016(T;T)
Reference	Rs60458016(G;G)
Significance	Pathogenic
Disease	Benign scapuloperoneal muscular dystrophy with cardiomyopathy Congenital muscular dystrophy Limb-girdle muscular dystrophy not provided Dilated cardiomyopathy 1A Familial partial lipodystrophy 2 Mandibuloacral dysostosis Charcot-Marie-Tooth disease
Variation	info
Gene	LMNA
CLNDBN	Benign scapuloperoneal muscular dystrophy with cardiomyopathy Congenital muscular dystrophy, LMNA-related Limb-girdle muscular dystrophy, type 1B not provided Dilated cardiomyopathy 1A Familial partial lipodystrophy 2 Mandibuloacral dysostosis Charcot-Marie-Tooth disease, type 2
Reversed	0
HGVS	NC_000001.10:g.156105827G>A; NC_000001.10:g.156105827G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015622.27, RCV000015623.27, RCV000015624.27, RCV000057227.1, RCV000308879.1, RCV000365923.1, RCV000402218.1, RCV000470514.1, RCV000057228.1,