rs727504482

Orientation

minus

Stabilized

minus

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

Make rs727504482(-;-)

Make rs727504482(-;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

178530596

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs727504482
dbSNP (classic)	rs727504482
ClinGen	rs727504482
ebi	rs727504482
HLI	rs727504482
Exac	rs727504482
Gnomad	rs727504482
Varsome	rs727504482
LitVar	rs727504482
Map	rs727504482
PheGenI	rs727504482
Biobank	rs727504482
1000 genomes	rs727504482
hgdp	rs727504482
ensembl	rs727504482
geneview	rs727504482
scholar	rs727504482
google	rs727504482
pharmgkb	rs727504482
gwascentral	rs727504482
openSNP	rs727504482
23andMe	rs727504482
SNPshot	rs727504482
SNPdbe	rs727504482
MSV3d	rs727504482
GWAS Ctlg	rs727504482

Max Magnitude

0

ClinVar
Risk	rs727504482(-;-)
Alt	rs727504482(-;-)
Reference	Rs727504482(G;G)
Significance	Probable-Pathogenic
Disease	Autosomal recessive centronuclear myopathy
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Autosomal recessive centronuclear myopathy
Reversed	1
HGVS	NC_000002.11:g.179395323delC
CLNSRC
CLNACC	RCV000155611.1,