rs199476398

Orientation

plus

Stabilized

plus

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

Make rs199476398(C;C)

Make rs199476398(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

119150937

Gene	LOC105379404, MYOZ2

is a	snp
is	mentioned by
dbSNP	rs199476398
dbSNP (classic)	rs199476398
ClinGen	rs199476398
ebi	rs199476398
HLI	rs199476398
Exac	rs199476398
Gnomad	rs199476398
Varsome	rs199476398
LitVar	rs199476398
Map	rs199476398
PheGenI	rs199476398
Biobank	rs199476398
1000 genomes	rs199476398
hgdp	rs199476398
ensembl	rs199476398
geneview	rs199476398
scholar	rs199476398
google	rs199476398
pharmgkb	rs199476398
gwascentral	rs199476398
openSNP	rs199476398
23andMe	rs199476398
SNPshot	rs199476398
SNPdbe	rs199476398
MSV3d	rs199476398
GWAS Ctlg	rs199476398

Max Magnitude

0

ClinVar
Risk	rs199476398(C;C)
Alt	rs199476398(C;C)
Reference	Rs199476398(T;T)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 16 not provided
Variation	info
Gene	MYOZ2
CLNDBN	Familial hypertrophic cardiomyopathy 16 not provided
Reversed	0
HGVS	NC_000004.11:g.120072092T>C
CLNSRC	Leiden Muscular Dystrophy pages (MYOZ2) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023465.3, RCV000024476.1,

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