rs571093313

Orientation

plus

Stabilized

plus

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

Make rs571093313(A;A)

Make rs571093313(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

178582086

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs571093313
dbSNP (classic)	rs571093313
ClinGen	rs571093313
ebi	rs571093313
HLI	rs571093313
Exac	rs571093313
Gnomad	rs571093313
Varsome	rs571093313
LitVar	rs571093313
Map	rs571093313
PheGenI	rs571093313
Biobank	rs571093313
1000 genomes	rs571093313
hgdp	rs571093313
ensembl	rs571093313
geneview	rs571093313
scholar	rs571093313
google	rs571093313
pharmgkb	rs571093313
gwascentral	rs571093313
openSNP	rs571093313
23andMe	rs571093313
SNPshot	rs571093313
SNPdbe	rs571093313
MSV3d	rs571093313
GWAS Ctlg	rs571093313

Max Magnitude

0

ClinVar
Risk	rs571093313(A;A)
Alt	rs571093313(A;A)
Reference	Rs571093313(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Myopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy Dilated Cardiomyopathy Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy
Variation	info
Gene	TTN TTN-AS1
CLNDBN	not specified Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy, Recessive Dilated Cardiomyopathy, Dominant Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy
Reversed	0
HGVS	NC_000002.11:g.179446813G>A
CLNSRC
CLNACC	RCV000171317.2, RCV000288338.1, RCV000303449.1, RCV000340260.1, RCV000343261.1, RCV000406446.1, RCV000406866.1,