rs121912673

Orientation

minus

Stabilized

minus

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

Make rs121912673(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

34791163

Gene	ACTC1, LOC101928174

is a	snp
is	mentioned by
dbSNP	rs121912673
dbSNP (classic)	rs121912673
ClinGen	rs121912673
ebi	rs121912673
HLI	rs121912673
Exac	rs121912673
Gnomad	rs121912673
Varsome	rs121912673
LitVar	rs121912673
Map	rs121912673
PheGenI	rs121912673
Biobank	rs121912673
1000 genomes	rs121912673
hgdp	rs121912673
ensembl	rs121912673
geneview	rs121912673
scholar	rs121912673
google	rs121912673
pharmgkb	rs121912673
gwascentral	rs121912673
openSNP	rs121912673
23andMe	rs121912673
SNPshot	rs121912673
SNPdbe	rs121912673
MSV3d	rs121912673
GWAS Ctlg	rs121912673

Max Magnitude

6.2

OMIM	102540
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912673(A;A)
Alt	rs121912673(A;A)
Reference	Rs121912673(G;G)
Significance	Pathogenic
Disease	Dilated cardiomyopathy 1R not provided
Variation	info
Gene	ACTC1 LOC101928174 RP11-814P5.1
CLNDBN	Dilated cardiomyopathy 1R not provided
Reversed	1
HGVS	NC_000015.9:g.35083364C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019988.26, RCV000489472.1,