rs121912675

Orientation

minus

Stabilized

minus

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

Make rs121912675(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

34791215

Gene	ACTC1, LOC101928174

is a	snp
is	mentioned by
dbSNP	rs121912675
dbSNP (classic)	rs121912675
ClinGen	rs121912675
ebi	rs121912675
HLI	rs121912675
Exac	rs121912675
Gnomad	rs121912675
Varsome	rs121912675
LitVar	rs121912675
Map	rs121912675
PheGenI	rs121912675
Biobank	rs121912675
1000 genomes	rs121912675
hgdp	rs121912675
ensembl	rs121912675
geneview	rs121912675
scholar	rs121912675
google	rs121912675
pharmgkb	rs121912675
gwascentral	rs121912675
openSNP	rs121912675
23andMe	rs121912675
SNPshot	rs121912675
SNPdbe	rs121912675
MSV3d	rs121912675
GWAS Ctlg	rs121912675

Max Magnitude

6.2

OMIM	102540
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912675(T;T)
Alt	rs121912675(T;T)
Reference	Rs121912675(G;G)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 11
Variation	info
Gene	ACTC1 LOC101928174 RP11-814P5.1
CLNDBN	Familial hypertrophic cardiomyopathy 11
Reversed	1
HGVS	NC_000015.9:g.35083416C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019990.27,