rs281864927

Orientation

minus

Stabilized

minus

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

Make rs281864927(AAGTAACATGG;TGAAAGAAAAA)

Make rs281864927(TGAAAGAAAAA;TGAAAGAAAAA)

Reference

GRCh38 38.1/141

Chromosome

2

Position

178527198

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs281864927
dbSNP (classic)	rs281864927
ClinGen	rs281864927
ebi	rs281864927
HLI	rs281864927
Exac	rs281864927
Gnomad	rs281864927
Varsome	rs281864927
LitVar	rs281864927
Map	rs281864927
PheGenI	rs281864927
Biobank	rs281864927
1000 genomes	rs281864927
hgdp	rs281864927
ensembl	rs281864927
geneview	rs281864927
scholar	rs281864927
google	rs281864927
pharmgkb	rs281864927
gwascentral	rs281864927
openSNP	rs281864927
23andMe	rs281864927
SNPshot	rs281864927
SNPdbe	rs281864927
MSV3d	rs281864927
GWAS Ctlg	rs281864927

Max Magnitude

0

ClinVar
Risk	rs281864927(TGAAAGAAAAA;TGAAAGAAAAA)
Alt	rs281864927(TGAAAGAAAAA;TGAAAGAAAAA)
Reference	Rs281864927(AAGTAACATGG;AAGTAACATGG)
Significance	Pathogenic
Disease	Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy Hereditary myopathy with early respiratory failure Myopathy Familial hypertrophic cardiomyopathy 9
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy, type 2J Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Familial hypertrophic cardiomyopathy 9
Reversed	1
HGVS	NC_000002.11:g.179391925_179391935delCCATGTTACTTinsTTTTTCTTTCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013487.27, RCV000013488.25, RCV000293165.1, RCV000350386.1, RCV000406890.1,

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