rs397516407

Orientation

minus

Stabilized

minus

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

Make rs397516407(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

110911090

Gene

MYL2

is a	snp
is	mentioned by
dbSNP	rs397516407
dbSNP (classic)	rs397516407
ClinGen	rs397516407
ebi	rs397516407
HLI	rs397516407
Exac	rs397516407
Gnomad	rs397516407
Varsome	rs397516407
LitVar	rs397516407
Map	rs397516407
PheGenI	rs397516407
Biobank	rs397516407
1000 genomes	rs397516407
hgdp	rs397516407
ensembl	rs397516407
geneview	rs397516407
scholar	rs397516407
google	rs397516407
pharmgkb	rs397516407
gwascentral	rs397516407
openSNP	rs397516407
23andMe	rs397516407
SNPshot	rs397516407
SNPdbe	rs397516407
MSV3d	rs397516407
GWAS Ctlg	rs397516407

Max Magnitude

6.2

ClinVar
Risk	rs397516407(C;C) rs397516407(G;G)
Alt	rs397516407(C;C) rs397516407(G;G)
Reference	Rs397516407(A;A)
Significance	Probable-Pathogenic
Disease	not provided not specified Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYL2
CLNDBN	not provided not specified Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000012.11:g.111348894T>C; NC_000012.11:g.111348894T>G
CLNSRC	ClinVar
CLNACC	RCV000158908.1, RCV000223748.1, RCV000036409.2,