rs121909375

Orientation

minus

Stabilized

minus

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

Make rs121909375(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47351356

Gene

MYBPC3

is a	snp
is	mentioned by
dbSNP	rs121909375
dbSNP (classic)	rs121909375
ClinGen	rs121909375
ebi	rs121909375
HLI	rs121909375
Exac	rs121909375
Gnomad	rs121909375
Varsome	rs121909375
LitVar	rs121909375
Map	rs121909375
PheGenI	rs121909375
Biobank	rs121909375
1000 genomes	rs121909375
hgdp	rs121909375
ensembl	rs121909375
geneview	rs121909375
scholar	rs121909375
google	rs121909375
pharmgkb	rs121909375
gwascentral	rs121909375
openSNP	rs121909375
23andMe	rs121909375
SNPshot	rs121909375
SNPdbe	rs121909375
MSV3d	rs121909375
GWAS Ctlg	rs121909375

Max Magnitude

6.2

OMIM	600958
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121909375(G;G)
Alt	rs121909375(G;G)
Reference	Rs121909375(A;A)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 4
Variation	info
Gene	MYBPC3
CLNDBN	Familial hypertrophic cardiomyopathy 4
Reversed	1
HGVS	NC_000011.9:g.47372907T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009145.3,