rs397516398

Orientation

minus

Stabilized

minus

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

Make rs397516398(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

110914267

Gene

MYL2

is a	snp
is	mentioned by
dbSNP	rs397516398
dbSNP (classic)	rs397516398
ClinGen	rs397516398
ebi	rs397516398
HLI	rs397516398
Exac	rs397516398
Gnomad	rs397516398
Varsome	rs397516398
LitVar	rs397516398
Map	rs397516398
PheGenI	rs397516398
Biobank	rs397516398
1000 genomes	rs397516398
hgdp	rs397516398
ensembl	rs397516398
geneview	rs397516398
scholar	rs397516398
google	rs397516398
pharmgkb	rs397516398
gwascentral	rs397516398
openSNP	rs397516398
23andMe	rs397516398
SNPshot	rs397516398
SNPdbe	rs397516398
MSV3d	rs397516398
GWAS Ctlg	rs397516398

Max Magnitude

6.2

ClinVar
Risk	rs397516398(A;A)
Alt	rs397516398(A;A)
Reference	Rs397516398(G;G)
Significance	Probable-Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYL2
CLNDBN	Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000012.11:g.111352071C>T
CLNSRC	ClinVar
CLNACC	RCV000036385.2,