rs267607577

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;GCAC)	6.2	Dilated cardiomyopathy

Make rs267607577(GCAC;GCAC)

Reference

GRCh38 38.1/142

Chromosome

1

Position

156136363

Gene

LMNA

is a	snp
is	mentioned by
dbSNP	rs267607577
dbSNP (classic)	rs267607577
ClinGen	rs267607577
ebi	rs267607577
HLI	rs267607577
Exac	rs267607577
Gnomad	rs267607577
Varsome	rs267607577
LitVar	rs267607577
Map	rs267607577
PheGenI	rs267607577
Biobank	rs267607577
1000 genomes	rs267607577
hgdp	rs267607577
ensembl	rs267607577
geneview	rs267607577
scholar	rs267607577
google	rs267607577
pharmgkb	rs267607577
gwascentral	rs267607577
openSNP	rs267607577
23andMe	rs267607577
SNPshot	rs267607577
SNPdbe	rs267607577
MSV3d	rs267607577
GWAS Ctlg	rs267607577

Max Magnitude

6.2

aka c.1296_1299dupGCAC and also c.1296_1299delGCACGCAC; both are annotated in ClinVar as pathogenic or likely pathogenic for cardiomyopathy

ClinVar
Risk	rs267607577(GCAC;GCAC)
Alt	rs267607577(GCAC;GCAC)
Reference	Rs267607577(-;-)
Significance	Pathogenic
Disease	not provided Cardiomyopathy
Variation	info
Gene	LMNA
CLNDBN	not provided Cardiomyopathy
Reversed	0
HGVS	NC_000001.10:g.156106151_156106154dupGCAC
CLNSRC	ClinVar Epithelial Biology
CLNACC	RCV000057266.3, RCV000157296.1,