rs281864930

Orientation

minus

Stabilized

minus

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

Make rs281864930(-;-)

Make rs281864930(-;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

178527099

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs281864930
dbSNP (classic)	rs281864930
ClinGen	rs281864930
ebi	rs281864930
HLI	rs281864930
Exac	rs281864930
Gnomad	rs281864930
Varsome	rs281864930
LitVar	rs281864930
Map	rs281864930
PheGenI	rs281864930
Biobank	rs281864930
1000 genomes	rs281864930
hgdp	rs281864930
ensembl	rs281864930
geneview	rs281864930
scholar	rs281864930
google	rs281864930
pharmgkb	rs281864930
gwascentral	rs281864930
openSNP	rs281864930
23andMe	rs281864930
SNPshot	rs281864930
SNPdbe	rs281864930
MSV3d	rs281864930
GWAS Ctlg	rs281864930

Max Magnitude

0

ClinVar
Risk	rs281864930(-;-)
Alt	rs281864930(-;-)
Reference	Rs281864930(A;A)
Significance	Pathogenic
Disease	Distal myopathy Markesbery-Griggs type not provided Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Dilated cardiomyopathy 1G Myopathy Limb-girdle muscular dystrophy
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Distal myopathy Markesbery-Griggs type not provided Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Dilated cardiomyopathy 1G Myopathy, early-onset, with fatal cardiomyopathy Limb-girdle muscular dystrophy, type 2J
Reversed	1
HGVS	NC_000002.11:g.179391826delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031995.4, RCV000184369.3, RCV000271287.1, RCV000307035.1, RCV000342035.1, RCV000366408.1, RCV000390302.1,

[PMID 18948003] Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).