rs786204950

Orientation

plus

Stabilized

plus

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

Make rs786204950(C;C)

Make rs786204950(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

236757607

Gene

ACTN2

is a	snp
is	mentioned by
dbSNP	rs786204950
dbSNP (classic)	rs786204950
ClinGen	rs786204950
ebi	rs786204950
HLI	rs786204950
Exac	rs786204950
Gnomad	rs786204950
Varsome	rs786204950
LitVar	rs786204950
Map	rs786204950
PheGenI	rs786204950
Biobank	rs786204950
1000 genomes	rs786204950
hgdp	rs786204950
ensembl	rs786204950
geneview	rs786204950
scholar	rs786204950
google	rs786204950
pharmgkb	rs786204950
gwascentral	rs786204950
openSNP	rs786204950
23andMe	rs786204950
SNPshot	rs786204950
SNPdbe	rs786204950
MSV3d	rs786204950
GWAS Ctlg	rs786204950

Max Magnitude

0

ClinVar
Risk	rs786204950(C;C)
Alt	rs786204950(C;C)
Reference	Rs786204950(G;G)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 23
Variation	info
Gene	ACTN2
CLNDBN	Familial hypertrophic cardiomyopathy 23
Reversed	0
HGVS	NC_000001.10:g.236920907G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000169902.4,