rs199474813

Orientation

minus

Stabilized

minus

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

Make rs199474813(C;C)

Make rs199474813(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

110911176

Gene

MYL2

is a	snp
is	mentioned by
dbSNP	rs199474813
dbSNP (classic)	rs199474813
ClinGen	rs199474813
ebi	rs199474813
HLI	rs199474813
Exac	rs199474813
Gnomad	rs199474813
Varsome	rs199474813
LitVar	rs199474813
Map	rs199474813
PheGenI	rs199474813
Biobank	rs199474813
1000 genomes	rs199474813
hgdp	rs199474813
ensembl	rs199474813
geneview	rs199474813
scholar	rs199474813
google	rs199474813
pharmgkb	rs199474813
gwascentral	rs199474813
openSNP	rs199474813
23andMe	rs199474813
SNPshot	rs199474813
SNPdbe	rs199474813
MSV3d	rs199474813
GWAS Ctlg	rs199474813

Max Magnitude

0

ClinVar
Risk	rs199474813(C;C) rs199474813(T;T)
Alt	rs199474813(C;C) rs199474813(T;T)
Reference	Rs199474813(G;G)
Significance	Pathogenic
Disease	not specified not provided Familial hypertrophic cardiomyopathy 10
Variation	info
Gene	MYL2
CLNDBN	not specified not provided Familial hypertrophic cardiomyopathy 10
Reversed	1
HGVS	NC_000012.11:g.111348980C>A; NC_000012.11:g.111348980C>G
CLNSRC	Leiden Muscular Dystrophy pages (MYL2)
CLNACC	RCV000455988.1, RCV000024459.2, RCV000466598.1,