rs184412722

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common genotype

Make rs184412722(C;C)

Make rs184412722(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

178729332

Gene

TTN

is a	snp
is	mentioned by
dbSNP	rs184412722
dbSNP (classic)	rs184412722
ClinGen	rs184412722
ebi	rs184412722
HLI	rs184412722
Exac	rs184412722
Gnomad	rs184412722
Varsome	rs184412722
LitVar	rs184412722
Map	rs184412722
PheGenI	rs184412722
Biobank	rs184412722
1000 genomes	rs184412722
hgdp	rs184412722
ensembl	rs184412722
geneview	rs184412722
scholar	rs184412722
google	rs184412722
pharmgkb	rs184412722
gwascentral	rs184412722
openSNP	rs184412722
23andMe	rs184412722
SNPshot	rs184412722
SNPdbe	rs184412722
MSV3d	rs184412722
GWAS Ctlg	rs184412722

Max Magnitude

0

ClinVar
Risk	rs184412722(C;C)
Alt	rs184412722(C;C)
Reference	Rs184412722(T;T)
Significance	Other
Disease	not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Myopathy Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure Dilated Cardiomyopathy Limb-Girdle Muscular Dystrophy Hypertrophic cardiomyopathy
Variation	info
Gene	TTN
CLNDBN	not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure Dilated Cardiomyopathy, Dominant Limb-Girdle Muscular Dystrophy, Recessive Hypertrophic cardiomyopathy
Reversed	0
HGVS	NC_000002.11:g.179594059T>C
CLNSRC
CLNACC	RCV000039916.7, RCV000082364.8, RCV000233561.2, RCV000262868.1, RCV000296922.1, RCV000302779.1, RCV000342596.1, RCV000355321.1, RCV000390436.1,