rs281864929

Orientation

minus

Stabilized

minus

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

Make rs281864929(C;T)

Make rs281864929(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

178527098

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs281864929
dbSNP (classic)	rs281864929
ClinGen	rs281864929
ebi	rs281864929
HLI	rs281864929
Exac	rs281864929
Gnomad	rs281864929
Varsome	rs281864929
LitVar	rs281864929
Map	rs281864929
PheGenI	rs281864929
Biobank	rs281864929
1000 genomes	rs281864929
hgdp	rs281864929
ensembl	rs281864929
geneview	rs281864929
scholar	rs281864929
google	rs281864929
pharmgkb	rs281864929
gwascentral	rs281864929
openSNP	rs281864929
23andMe	rs281864929
SNPshot	rs281864929
SNPdbe	rs281864929
MSV3d	rs281864929
GWAS Ctlg	rs281864929

Max Magnitude

0

ClinVar
Risk	rs281864929(T;T)
Alt	rs281864929(T;T)
Reference	Rs281864929(C;C)
Significance	Pathogenic
Disease	Distal myopathy Markesbery-Griggs type
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Distal myopathy Markesbery-Griggs type
Reversed	1
HGVS	NC_000002.11:g.179391825G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031996.2,

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