rs140126678

Orientation

plus

Stabilized

plus

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

Make rs140126678(A;G)

Make rs140126678(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

119186143

Gene

MYOZ2

is a	snp
is	mentioned by
dbSNP	rs140126678
dbSNP (classic)	rs140126678
ClinGen	rs140126678
ebi	rs140126678
HLI	rs140126678
Exac	rs140126678
Gnomad	rs140126678
Varsome	rs140126678
LitVar	rs140126678
Map	rs140126678
PheGenI	rs140126678
Biobank	rs140126678
1000 genomes	rs140126678
hgdp	rs140126678
ensembl	rs140126678
geneview	rs140126678
scholar	rs140126678
google	rs140126678
pharmgkb	rs140126678
gwascentral	rs140126678
openSNP	rs140126678
23andMe	rs140126678
SNPshot	rs140126678
SNPdbe	rs140126678
MSV3d	rs140126678
GWAS Ctlg	rs140126678

GMAF

0.001837

Max Magnitude

0

ClinVar
Risk	rs140126678(G;G)
Alt	rs140126678(G;G)
Reference	Rs140126678(A;A)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 16 not provided not specified Hypertrophic cardiomyopathy
Variation	info
Gene	MYOZ2
CLNDBN	Familial hypertrophic cardiomyopathy 16 not provided not specified Hypertrophic cardiomyopathy
Reversed	0
HGVS	NC_000004.11:g.120107298A>G
CLNSRC	Leiden Muscular Dystrophy pages (MYOZ2) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023466.3, RCV000024477.1, RCV000039013.2, RCV000330572.1,

[PMID 17347475] Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.