rs121917760

Orientation

minus

Stabilized

minus

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

Make rs121917760(A;A)

Make rs121917760(A;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

55154148

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs121917760
dbSNP (classic)	rs121917760
ClinGen	rs121917760
ebi	rs121917760
HLI	rs121917760
Exac	rs121917760
Gnomad	rs121917760
Varsome	rs121917760
LitVar	rs121917760
Map	rs121917760
PheGenI	rs121917760
Biobank	rs121917760
1000 genomes	rs121917760
hgdp	rs121917760
ensembl	rs121917760
geneview	rs121917760
scholar	rs121917760
google	rs121917760
pharmgkb	rs121917760
gwascentral	rs121917760
openSNP	rs121917760
23andMe	rs121917760
SNPshot	rs121917760
SNPdbe	rs121917760
MSV3d	rs121917760
GWAS Ctlg	rs121917760

Max Magnitude

6.2

OMIM	191044
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121917760(A;A) rs121917760(C;C)
Alt	rs121917760(A;A) rs121917760(C;C)
Reference	Rs121917760(T;T)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy Familial restrictive cardiomyopathy 1
Variation	info
Gene	TNNI3
CLNDBN	Primary familial hypertrophic cardiomyopathy Familial restrictive cardiomyopathy 1
Reversed	1
HGVS	NC_000019.9:g.55665516A>G; NC_000019.9:g.55665516A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000036292.3, RCV000013241.23,