rs111377893

Orientation

plus

Stabilized

plus

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

Make rs111377893(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201359622

Gene

TNNT2

is a	snp
is	mentioned by
dbSNP	rs111377893
dbSNP (classic)	rs111377893
ClinGen	rs111377893
ebi	rs111377893
HLI	rs111377893
Exac	rs111377893
Gnomad	rs111377893
Varsome	rs111377893
LitVar	rs111377893
Map	rs111377893
PheGenI	rs111377893
Biobank	rs111377893
1000 genomes	rs111377893
hgdp	rs111377893
ensembl	rs111377893
geneview	rs111377893
scholar	rs111377893
google	rs111377893
pharmgkb	rs111377893
gwascentral	rs111377893
openSNP	rs111377893
23andMe	rs111377893
SNPshot	rs111377893
SNPdbe	rs111377893
MSV3d	rs111377893
GWAS Ctlg	rs111377893

Max Magnitude

6.2

ClinVar
Risk	rs111377893(A;A) rs111377893(G;G) rs111377893(T;T)
Alt	rs111377893(A;A) rs111377893(G;G) rs111377893(T;T)
Reference	Rs111377893(C;C)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2
Variation	info
Gene	TNNT2
CLNDBN	Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2
Reversed	0
HGVS	NC_000001.10:g.201328750C>A; NC_000001.10:g.201328750C>G; NC_000001.10:g.201328750C>T
CLNSRC	ClinVar
CLNACC	RCV000152095.2, RCV000458092.1, RCV000036621.3,