rs121912674

Orientation

minus

Stabilized

minus

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

Make rs121912674(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

34790458

Gene	ACTC1, LOC101928174

is a	snp
is	mentioned by
dbSNP	rs121912674
dbSNP (classic)	rs121912674
ClinGen	rs121912674
ebi	rs121912674
HLI	rs121912674
Exac	rs121912674
Gnomad	rs121912674
Varsome	rs121912674
LitVar	rs121912674
Map	rs121912674
PheGenI	rs121912674
Biobank	rs121912674
1000 genomes	rs121912674
hgdp	rs121912674
ensembl	rs121912674
geneview	rs121912674
scholar	rs121912674
google	rs121912674
pharmgkb	rs121912674
gwascentral	rs121912674
openSNP	rs121912674
23andMe	rs121912674
SNPshot	rs121912674
SNPdbe	rs121912674
MSV3d	rs121912674
GWAS Ctlg	rs121912674

Max Magnitude

6.2

OMIM	102540
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912674(G;G)
Alt	rs121912674(G;G)
Reference	Rs121912674(A;A)
Significance	Pathogenic
Disease	Dilated cardiomyopathy 1R
Variation	info
Gene	ACTC1 LOC101928174 RP11-814P5.1
CLNDBN	Dilated cardiomyopathy 1R
Reversed	1
HGVS	NC_000015.9:g.35082659T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019989.28,