rs794727387

Orientation

minus

Stabilized

minus

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

Make rs794727387(G;T)

Make rs794727387(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

178605182

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs794727387
dbSNP (classic)	rs794727387
ClinGen	rs794727387
ebi	rs794727387
HLI	rs794727387
Exac	rs794727387
Gnomad	rs794727387
Varsome	rs794727387
LitVar	rs794727387
Map	rs794727387
PheGenI	rs794727387
Biobank	rs794727387
1000 genomes	rs794727387
hgdp	rs794727387
ensembl	rs794727387
geneview	rs794727387
scholar	rs794727387
google	rs794727387
pharmgkb	rs794727387
gwascentral	rs794727387
openSNP	rs794727387
23andMe	rs794727387
SNPshot	rs794727387
SNPdbe	rs794727387
MSV3d	rs794727387
GWAS Ctlg	rs794727387

Max Magnitude

0

ClinVar
Risk	rs794727387(T;T)
Alt	rs794727387(T;T)
Reference	Rs794727387(G;G)
Significance	Probable-Pathogenic
Disease	Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy Myopathy Familial hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Hereditary myopathy with early respiratory failure
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy Familial hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Hereditary myopathy with early respiratory failure
Reversed	1
HGVS	NC_000002.11:g.179469909C>A
CLNSRC
CLNACC	RCV000176441.1, RCV000262569.1, RCV000284127.1, RCV000319989.1, RCV000373293.1, RCV000376910.1,