rs199474724

plus

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

Make rs199474724(A;A)

Make rs199474724(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

156134839

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs199474724
dbSNP (classic)	rs199474724
ClinGen	rs199474724
ebi	rs199474724
HLI	rs199474724
Exac	rs199474724
Gnomad	rs199474724
Varsome	rs199474724
LitVar	rs199474724
Map	rs199474724
PheGenI	rs199474724
Biobank	rs199474724
1000 genomes	rs199474724
hgdp	rs199474724
ensembl	rs199474724
geneview	rs199474724
scholar	rs199474724
google	rs199474724
pharmgkb	rs199474724
gwascentral	rs199474724
openSNP	rs199474724
23andMe	rs199474724
SNPshot	rs199474724
SNPdbe	rs199474724
MSV3d	rs199474724
GWAS Ctlg	rs199474724

Max Magnitude

0

ClinVar
Risk	rs199474724(A;A)
Alt	rs199474724(A;A)
Reference	Rs199474724(G;G)
Significance	Pathogenic
Disease	Benign scapuloperoneal muscular dystrophy with cardiomyopathy Emery-Dreifuss muscular dystrophy 3
Variation	info
Gene	LMNA
CLNDBN	Benign scapuloperoneal muscular dystrophy with cardiomyopathy Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Reversed	0
HGVS	NC_000001.10:g.156104630G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034134.2, RCV000190400.3,

[PMID 22431096] Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.