rs869320741

Orientation

minus

Stabilized

minus

Make rs869320741(C;C)

Make rs869320741(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

178546051

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs869320741
dbSNP (classic)	rs869320741
ClinGen	rs869320741
ebi	rs869320741
HLI	rs869320741
Exac	rs869320741
Gnomad	rs869320741
Varsome	rs869320741
LitVar	rs869320741
Map	rs869320741
PheGenI	rs869320741
Biobank	rs869320741
1000 genomes	rs869320741
hgdp	rs869320741
ensembl	rs869320741
geneview	rs869320741
scholar	rs869320741
google	rs869320741
pharmgkb	rs869320741
gwascentral	rs869320741
openSNP	rs869320741
23andMe	rs869320741
SNPshot	rs869320741
SNPdbe	rs869320741
MSV3d	rs869320741
GWAS Ctlg	rs869320741

Max Magnitude

0

ClinVar
Risk	rs869320741(C;C)
Alt	rs869320741(C;C)
Reference	Rs869320741(T;T)
Significance	Pathogenic
Disease	Hereditary myopathy with early respiratory failure
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Hereditary myopathy with early respiratory failure
Reversed	1
HGVS	NC_000002.11:g.179410778A>G
CLNSRC
CLNACC	RCV000119022.2,