rs727503246

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6.2	Familial Hypertrophic Cardiomyopathy
(G;G)	0	common in clinvar

Make rs727503246(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

23418313

Gene	MIR208B, MYH7

is a	snp
is	mentioned by
dbSNP	rs727503246
dbSNP (classic)	rs727503246
ClinGen	rs727503246
ebi	rs727503246
HLI	rs727503246
Exac	rs727503246
Gnomad	rs727503246
Varsome	rs727503246
LitVar	rs727503246
Map	rs727503246
PheGenI	rs727503246
Biobank	rs727503246
1000 genomes	rs727503246
hgdp	rs727503246
ensembl	rs727503246
geneview	rs727503246
scholar	rs727503246
google	rs727503246
pharmgkb	rs727503246
gwascentral	rs727503246
openSNP	rs727503246
23andMe	rs727503246
SNPshot	rs727503246
SNPdbe	rs727503246
MSV3d	rs727503246
GWAS Ctlg	rs727503246

Max Magnitude

6.2

ClinVar
Risk	rs727503246(A;A)
Alt	rs727503246(A;A)
Reference	Rs727503246(G;G)
Significance	Pathogenic
Disease	not specified Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation	info
Gene	MYH7 MIR208B
CLNDBN	not specified Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23887522C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000151243.2, RCV000168900.2, RCV000223815.1, RCV000461192.1,