rs193922681

Orientation

minus

Stabilized

minus

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

Make rs193922681(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

34794742

Gene	ACTC1, LOC101928174

is a	snp
is	mentioned by
dbSNP	rs193922681
dbSNP (classic)	rs193922681
ClinGen	rs193922681
ebi	rs193922681
HLI	rs193922681
Exac	rs193922681
Gnomad	rs193922681
Varsome	rs193922681
LitVar	rs193922681
Map	rs193922681
PheGenI	rs193922681
Biobank	rs193922681
1000 genomes	rs193922681
hgdp	rs193922681
ensembl	rs193922681
geneview	rs193922681
scholar	rs193922681
google	rs193922681
pharmgkb	rs193922681
gwascentral	rs193922681
openSNP	rs193922681
23andMe	rs193922681
SNPshot	rs193922681
SNPdbe	rs193922681
MSV3d	rs193922681
GWAS Ctlg	rs193922681

Max Magnitude

6.2

ClinVar
Risk	rs193922681(C;C)
Alt	rs193922681(C;C)
Reference	Rs193922681(T;T)
Significance	Probable-Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	ACTC1 LOC101928174 RP11-814P5.1
CLNDBN	Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000015.9:g.35086943A>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029294.1,