rs397515943

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CCCT;CCCT)	0	common in clinvar

Make rs397515943(CCCT;GG)

Make rs397515943(GG;GG)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47339702

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs397515943
dbSNP (classic)	rs397515943
ClinGen	rs397515943
ebi	rs397515943
HLI	rs397515943
Exac	rs397515943
Gnomad	rs397515943
Varsome	rs397515943
LitVar	rs397515943
Map	rs397515943
PheGenI	rs397515943
Biobank	rs397515943
1000 genomes	rs397515943
hgdp	rs397515943
ensembl	rs397515943
geneview	rs397515943
scholar	rs397515943
google	rs397515943
pharmgkb	rs397515943
gwascentral	rs397515943
openSNP	rs397515943
23andMe	rs397515943
SNPshot	rs397515943
SNPdbe	rs397515943
MSV3d	rs397515943
GWAS Ctlg	rs397515943

Max Magnitude

0

ClinVar
Risk	rs397515943(GG;GG)
Alt	rs397515943(GG;GG)
Reference	Rs397515943(CCCT;CCCT)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	MYBPC3
CLNDBN	Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000011.9:g.47361253_47361256delAGGGinsCC
CLNSRC	ClinVar
CLNACC	RCV000035460.2,