rs587780495

Orientation

minus

Stabilized

minus

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

Make rs587780495(C;C)

Make rs587780495(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

178539459

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs587780495
dbSNP (classic)	rs587780495
ClinGen	rs587780495
ebi	rs587780495
HLI	rs587780495
Exac	rs587780495
Gnomad	rs587780495
Varsome	rs587780495
LitVar	rs587780495
Map	rs587780495
PheGenI	rs587780495
Biobank	rs587780495
1000 genomes	rs587780495
hgdp	rs587780495
ensembl	rs587780495
geneview	rs587780495
scholar	rs587780495
google	rs587780495
pharmgkb	rs587780495
gwascentral	rs587780495
openSNP	rs587780495
23andMe	rs587780495
SNPshot	rs587780495
SNPdbe	rs587780495
MSV3d	rs587780495
GWAS Ctlg	rs587780495

Max Magnitude

0

ClinVar
Risk	rs587780495(A;A) rs587780495(C;C)
Alt	rs587780495(A;A) rs587780495(C;C)
Reference	Rs587780495(G;G)
Significance	Probable-Pathogenic
Disease	Distal myopathy Markesbery-Griggs type
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Distal myopathy Markesbery-Griggs type
Reversed	1
HGVS	NC_000002.11:g.179404186C>G
CLNSRC
CLNACC	RCV000118795.1,