rs376923877

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6	Familial hypertrophic cardiomyopathy (possible)
(G;G)	0	common in clinvar
(G;T)	6.2	Familial Hypertrophic Cardiomyopathy

Make rs376923877(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

201359637

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs376923877
dbSNP (classic)	rs376923877
ClinGen	rs376923877
ebi	rs376923877
HLI	rs376923877
Exac	rs376923877
Gnomad	rs376923877
Varsome	rs376923877
LitVar	rs376923877
Map	rs376923877
PheGenI	rs376923877
Biobank	rs376923877
1000 genomes	rs376923877
hgdp	rs376923877
ensembl	rs376923877
geneview	rs376923877
scholar	rs376923877
google	rs376923877
pharmgkb	rs376923877
gwascentral	rs376923877
openSNP	rs376923877
23andMe	rs376923877
SNPshot	rs376923877
SNPdbe	rs376923877
MSV3d	rs376923877
GWAS Ctlg	rs376923877

Max Magnitude

6.2

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].

ClinVar
Risk	rs376923877(A;A) rs376923877(T;T)
Alt	rs376923877(A;A) rs376923877(T;T)
Reference	Rs376923877(G;G)
Significance	Other
Disease	not specified Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	TNNT2
CLNDBN	not specified Primary familial hypertrophic cardiomyopathy
Reversed	0
HGVS	NC_000001.10:g.201328765G>A; NC_000001.10:g.201328765G>T
CLNSRC
CLNACC	RCV000036620.5, RCV000154493.2,