rs72646846

Orientation

minus

Stabilized

minus

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

Make rs72646846(C;T)

Make rs72646846(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

178589849

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs72646846
dbSNP (classic)	rs72646846
ClinGen	rs72646846
ebi	rs72646846
HLI	rs72646846
Exac	rs72646846
Gnomad	rs72646846
Varsome	rs72646846
LitVar	rs72646846
Map	rs72646846
PheGenI	rs72646846
Biobank	rs72646846
1000 genomes	rs72646846
hgdp	rs72646846
ensembl	rs72646846
geneview	rs72646846
scholar	rs72646846
google	rs72646846
pharmgkb	rs72646846
gwascentral	rs72646846
openSNP	rs72646846
23andMe	rs72646846
SNPshot	rs72646846
SNPdbe	rs72646846
MSV3d	rs72646846
GWAS Ctlg	rs72646846

Max Magnitude

0

ClinVar
Risk	rs72646846(T;T)
Alt	rs72646846(T;T)
Reference	Rs72646846(C;C)
Significance	Pathogenic
Disease	Dilated cardiomyopathy 1G not provided Primary dilated cardiomyopathy Limb-girdle muscular dystrophy Myopathy Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Dilated cardiomyopathy 1G not provided Primary dilated cardiomyopathy Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure
Reversed	1
HGVS	NC_000002.11:g.179454576G>A
CLNSRC	ClinVar
CLNACC	RCV000040445.6, RCV000184247.2, RCV000211745.1, RCV000268758.2, RCV000275044.2, RCV000306166.2, RCV000309661.2, RCV000328878.2,