rs4893853

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common genotype

Make rs4893853(C;C)

Make rs4893853(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

178767769

Gene

TTN

is a	snp
is	mentioned by
dbSNP	rs4893853
dbSNP (classic)	rs4893853
ClinGen	rs4893853
ebi	rs4893853
HLI	rs4893853
Exac	rs4893853
Gnomad	rs4893853
Varsome	rs4893853
LitVar	rs4893853
Map	rs4893853
PheGenI	rs4893853
Biobank	rs4893853
1000 genomes	rs4893853
hgdp	rs4893853
ensembl	rs4893853
geneview	rs4893853
scholar	rs4893853
google	rs4893853
pharmgkb	rs4893853
gwascentral	rs4893853
openSNP	rs4893853
23andMe	rs4893853
SNPshot	rs4893853
SNPdbe	rs4893853
MSV3d	rs4893853
GWAS Ctlg	rs4893853

Max Magnitude

0

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

ClinVar
Risk	rs4893853(C;C)
Alt	rs4893853(C;C)
Reference	Rs4893853(T;T)
Significance	Other
Disease	not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy Dilated Cardiomyopathy Hereditary myopathy with early respiratory failure Myopathy Limb-Girdle Muscular Dystrophy
Variation	info
Gene	TTN
CLNDBN	not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive
Reversed	0
HGVS	NC_000002.11:g.179632496T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000040917.8, RCV000242068.1, RCV000270661.1, RCV000276371.1, RCV000325661.1, RCV000331451.1, RCV000364714.1, RCV000389547.1,