rs754717390

Orientation

plus

Stabilized

plus

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

Make rs754717390(C;G)

Make rs754717390(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

178601653

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs754717390
dbSNP (classic)	rs754717390
ClinGen	rs754717390
ebi	rs754717390
HLI	rs754717390
Exac	rs754717390
Gnomad	rs754717390
Varsome	rs754717390
LitVar	rs754717390
Map	rs754717390
PheGenI	rs754717390
Biobank	rs754717390
1000 genomes	rs754717390
hgdp	rs754717390
ensembl	rs754717390
geneview	rs754717390
scholar	rs754717390
google	rs754717390
pharmgkb	rs754717390
gwascentral	rs754717390
openSNP	rs754717390
23andMe	rs754717390
SNPshot	rs754717390
SNPdbe	rs754717390
MSV3d	rs754717390
GWAS Ctlg	rs754717390

Max Magnitude

0

ClinVar
Risk	rs754717390(G;G)
Alt	rs754717390(G;G)
Reference	Rs754717390(C;C)
Significance	Pathogenic
Disease	not provided Limb-Girdle Muscular Dystrophy Hereditary myopathy with early respiratory failure Hypertrophic cardiomyopathy Distal myopathy Markesbery-Griggs type Dilated Cardiomyopathy Myopathy
Variation	info
Gene	TTN TTN-AS1
CLNDBN	not provided Limb-Girdle Muscular Dystrophy, Recessive Hereditary myopathy with early respiratory failure Hypertrophic cardiomyopathy Distal myopathy Markesbery-Griggs type Dilated Cardiomyopathy, Dominant Myopathy, early-onset, with fatal cardiomyopathy
Reversed	0
HGVS	NC_000002.11:g.179466380C>G
CLNSRC
CLNACC	RCV000184239.2, RCV000278169.1, RCV000295999.1, RCV000331273.1, RCV000350933.1, RCV000385626.1, RCV000405475.1,