rs1060500589

Orientation

minus

Stabilized

minus

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

Make rs1060500589(AAT;TATA)

Make rs1060500589(TATA;TATA)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

178533817

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs1060500589
dbSNP (classic)	rs1060500589
ClinGen	rs1060500589
ebi	rs1060500589
HLI	rs1060500589
Exac	rs1060500589
Gnomad	rs1060500589
Varsome	rs1060500589
LitVar	rs1060500589
Map	rs1060500589
PheGenI	rs1060500589
Biobank	rs1060500589
1000 genomes	rs1060500589
hgdp	rs1060500589
ensembl	rs1060500589
geneview	rs1060500589
scholar	rs1060500589
google	rs1060500589
pharmgkb	rs1060500589
gwascentral	rs1060500589
openSNP	rs1060500589
23andMe	rs1060500589
SNPshot	rs1060500589
SNPdbe	rs1060500589
MSV3d	rs1060500589
GWAS Ctlg	rs1060500589

Max Magnitude

0

ClinVar
Risk	rs1060500589(TATA;TATA)
Alt	rs1060500589(TATA;TATA)
Reference	Rs1060500589(AAT;AAT)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Limb-girdle muscular dystrophy, type 2J
Reversed	1
HGVS	NC_000002.11:g.179398544_179398546delATTinsTATA
CLNSRC
CLNACC	RCV000456387.1,