rs397516171

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	Familial hypertrophic cardiomyopathy (possible)
(G;G)	0	common in clinvar

Make rs397516171(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23424041

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs397516171
dbSNP (classic)	rs397516171
ClinGen	rs397516171
ebi	rs397516171
HLI	rs397516171
Exac	rs397516171
Gnomad	rs397516171
Varsome	rs397516171
LitVar	rs397516171
Map	rs397516171
PheGenI	rs397516171
Biobank	rs397516171
1000 genomes	rs397516171
hgdp	rs397516171
ensembl	rs397516171
geneview	rs397516171
scholar	rs397516171
google	rs397516171
pharmgkb	rs397516171
gwascentral	rs397516171
openSNP	rs397516171
23andMe	rs397516171
SNPshot	rs397516171
SNPdbe	rs397516171
MSV3d	rs397516171
GWAS Ctlg	rs397516171

Max Magnitude

6

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].

ClinVar
Risk	rs397516171(A;A) rs397516171(C;C)
Alt	rs397516171(A;A) rs397516171(C;C)
Reference	Rs397516171(G;G)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype
Variation	info
Gene	MYH7
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype
Reversed	1
HGVS	NC_000014.8:g.23893250C>G; NC_000014.8:g.23893250C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000151255.2, RCV000158575.2, RCV000035826.2, RCV000158854.2, RCV000242427.1,