rs397517586

Orientation

minus

Stabilized

minus

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

Make rs397517586(A;A)

Make rs397517586(A;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

178618777

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs397517586
dbSNP (classic)	rs397517586
ClinGen	rs397517586
ebi	rs397517586
HLI	rs397517586
Exac	rs397517586
Gnomad	rs397517586
Varsome	rs397517586
LitVar	rs397517586
Map	rs397517586
PheGenI	rs397517586
Biobank	rs397517586
1000 genomes	rs397517586
hgdp	rs397517586
ensembl	rs397517586
geneview	rs397517586
scholar	rs397517586
google	rs397517586
pharmgkb	rs397517586
gwascentral	rs397517586
openSNP	rs397517586
23andMe	rs397517586
SNPshot	rs397517586
SNPdbe	rs397517586
MSV3d	rs397517586
GWAS Ctlg	rs397517586

Max Magnitude

0

ClinVar
Risk	rs397517586(A;A) rs397517586(C;C)
Alt	rs397517586(A;A) rs397517586(C;C)
Reference	Rs397517586(T;T)
Significance	Probable-Pathogenic
Disease	Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy Myopathy Dilated Cardiomyopathy Primary dilated cardiomyopathy
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy, Recessive Distal myopathy Markesbery-Griggs type Hypertrophic cardiomyopathy Myopathy, early-onset, with fatal cardiomyopathy Dilated Cardiomyopathy, Dominant Primary dilated cardiomyopathy
Reversed	1
HGVS	NC_000002.11:g.179483504A>G; NC_000002.11:g.179483504A>T
CLNSRC	ClinVar
CLNACC	RCV000260380.1, RCV000280843.1, RCV000315704.1, RCV000323974.1, RCV000374957.1, RCV000378459.1, RCV000040273.2,