rs727503296

Orientation

minus

Stabilized

minus

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

Make rs727503296(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

110911096

Gene

MYL2

is a	snp
is	mentioned by
dbSNP	rs727503296
dbSNP (classic)	rs727503296
ClinGen	rs727503296
ebi	rs727503296
HLI	rs727503296
Exac	rs727503296
Gnomad	rs727503296
Varsome	rs727503296
LitVar	rs727503296
Map	rs727503296
PheGenI	rs727503296
Biobank	rs727503296
1000 genomes	rs727503296
hgdp	rs727503296
ensembl	rs727503296
geneview	rs727503296
scholar	rs727503296
google	rs727503296
pharmgkb	rs727503296
gwascentral	rs727503296
openSNP	rs727503296
23andMe	rs727503296
SNPshot	rs727503296
SNPdbe	rs727503296
MSV3d	rs727503296
GWAS Ctlg	rs727503296

Max Magnitude

6.2

ClinVar
Risk	rs727503296(G;G)
Alt	rs727503296(G;G)
Reference	Rs727503296(A;A)
Significance	Probable-Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYL2
CLNDBN	Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000012.11:g.111348900T>C
CLNSRC
CLNACC	RCV000151360.2,