rs199474808

Orientation

minus

Stabilized

minus

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

Make rs199474808(A;A)

Make rs199474808(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

110915743

Gene

MYL2

is a	snp
is	mentioned by
dbSNP	rs199474808
dbSNP (classic)	rs199474808
ClinGen	rs199474808
ebi	rs199474808
HLI	rs199474808
Exac	rs199474808
Gnomad	rs199474808
Varsome	rs199474808
LitVar	rs199474808
Map	rs199474808
PheGenI	rs199474808
Biobank	rs199474808
1000 genomes	rs199474808
hgdp	rs199474808
ensembl	rs199474808
geneview	rs199474808
scholar	rs199474808
google	rs199474808
pharmgkb	rs199474808
gwascentral	rs199474808
openSNP	rs199474808
23andMe	rs199474808
SNPshot	rs199474808
SNPdbe	rs199474808
MSV3d	rs199474808
GWAS Ctlg	rs199474808

Max Magnitude

0

ClinVar
Risk	rs199474808(A;A) rs199474808(T;T)
Alt	rs199474808(A;A) rs199474808(T;T)
Reference	Rs199474808(C;C)
Significance	Pathogenic
Disease	not specified not provided Primary familial hypertrophic cardiomyopathy Ventricular extrasystoles Death in infancy Cardiovascular phenotype
Variation	info
Gene	MYL2
CLNDBN	not specified not provided Primary familial hypertrophic cardiomyopathy Ventricular extrasystoles Death in infancy Cardiovascular phenotype
Reversed	1
HGVS	NC_000012.11:g.111353547G>A; NC_000012.11:g.111353547G>T
CLNSRC	Leiden Muscular Dystrophy pages (MYL2)
CLNACC	RCV000036382.2, RCV000024457.1, RCV000036381.2, RCV000148715.1, RCV000157368.1, RCV000234981.1, RCV000254541.1,