rs12476289

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs12476289(C;T)

Make rs12476289(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

178777248

Gene	LOC101927055, TTN

is a	snp
is	mentioned by
dbSNP	rs12476289
dbSNP (classic)	rs12476289
ClinGen	rs12476289
ebi	rs12476289
HLI	rs12476289
Exac	rs12476289
Gnomad	rs12476289
Varsome	rs12476289
LitVar	rs12476289
Map	rs12476289
PheGenI	rs12476289
Biobank	rs12476289
1000 genomes	rs12476289
hgdp	rs12476289
ensembl	rs12476289
geneview	rs12476289
scholar	rs12476289
google	rs12476289
pharmgkb	rs12476289
gwascentral	rs12476289
openSNP	rs12476289
23andMe	rs12476289
SNPshot	rs12476289
SNPdbe	rs12476289
MSV3d	rs12476289
GWAS Ctlg	rs12476289

GMAF

0.08999

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

GWAS snp
PMID	[PMID 20031603]
Trait	QT interval
Title	A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations: The EUROSPAN Project
Risk Allele	A
P-val	0.000002
Odds Ratio	0.29 [0.17-0.41] unit increase

ClinVar
Risk	rs12476289(A;A) rs12476289(T;T)
Alt	rs12476289(A;A) rs12476289(T;T)
Reference	Rs12476289(C;C)
Significance	Probable-non-pathogenic
Disease	not specified Cardiovascular phenotype Hereditary myopathy with early respiratory failure Dilated Cardiomyopathy Hypertrophic cardiomyopathy Myopathy Distal myopathy Markesbery-Griggs type Limb-Girdle Muscular Dystrophy
Variation	info
Gene	TTN LOC101927055
CLNDBN	not specified Cardiovascular phenotype Hereditary myopathy with early respiratory failure Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Myopathy, early-onset, with fatal cardiomyopathy Distal myopathy Markesbery-Griggs type Limb-Girdle Muscular Dystrophy, Recessive
Reversed	0
HGVS	NC_000002.11:g.179641975C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000040368.6, RCV000245456.1, RCV000263185.1, RCV000264237.1, RCV000318411.1, RCV000324173.1, RCV000377585.1, RCV000378728.1,