rs565675340

Orientation

plus

Stabilized

plus

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

Make rs565675340(A;A)

Make rs565675340(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

178528797

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs565675340
dbSNP (classic)	rs565675340
ClinGen	rs565675340
ebi	rs565675340
HLI	rs565675340
Exac	rs565675340
Gnomad	rs565675340
Varsome	rs565675340
LitVar	rs565675340
Map	rs565675340
PheGenI	rs565675340
Biobank	rs565675340
1000 genomes	rs565675340
hgdp	rs565675340
ensembl	rs565675340
geneview	rs565675340
scholar	rs565675340
google	rs565675340
pharmgkb	rs565675340
gwascentral	rs565675340
openSNP	rs565675340
23andMe	rs565675340
SNPshot	rs565675340
SNPdbe	rs565675340
MSV3d	rs565675340
GWAS Ctlg	rs565675340

Max Magnitude

0

ClinVar
Risk	rs565675340(A;A)
Alt	rs565675340(A;A)
Reference	Rs565675340(G;G)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy Myopathy
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy
Reversed	0
HGVS	NC_000002.11:g.179393524G>A
CLNSRC
CLNACC	RCV000197581.1,