rs1060500549

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1060500549(C;C)

Make rs1060500549(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

178768672

Gene

TTN

is a	snp
is	mentioned by
dbSNP	rs1060500549
dbSNP (classic)	rs1060500549
ClinGen	rs1060500549
ebi	rs1060500549
HLI	rs1060500549
Exac	rs1060500549
Gnomad	rs1060500549
Varsome	rs1060500549
LitVar	rs1060500549
Map	rs1060500549
PheGenI	rs1060500549
Biobank	rs1060500549
1000 genomes	rs1060500549
hgdp	rs1060500549
ensembl	rs1060500549
geneview	rs1060500549
scholar	rs1060500549
google	rs1060500549
pharmgkb	rs1060500549
gwascentral	rs1060500549
openSNP	rs1060500549
23andMe	rs1060500549
SNPshot	rs1060500549
SNPdbe	rs1060500549
MSV3d	rs1060500549
GWAS Ctlg	rs1060500549

Max Magnitude

0

ClinVar
Risk	rs1060500549(C;C)
Alt	rs1060500549(C;C)
Reference	Rs1060500549(G;G)
Significance	Pathogenic
Disease	Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Myopathy
Variation	info
Gene	TTN
CLNDBN	Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy
Reversed	1
HGVS	NC_000002.11:g.179633399C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000470325.1, RCV000490775.1,