rs727504483

Orientation

minus

Stabilized

minus

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

Make rs727504483(-;-)

Make rs727504483(-;AACA)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

178569736

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs727504483
dbSNP (classic)	rs727504483
ClinGen	rs727504483
ebi	rs727504483
HLI	rs727504483
Exac	rs727504483
Gnomad	rs727504483
Varsome	rs727504483
LitVar	rs727504483
Map	rs727504483
PheGenI	rs727504483
Biobank	rs727504483
1000 genomes	rs727504483
hgdp	rs727504483
ensembl	rs727504483
geneview	rs727504483
scholar	rs727504483
google	rs727504483
pharmgkb	rs727504483
gwascentral	rs727504483
openSNP	rs727504483
23andMe	rs727504483
SNPshot	rs727504483
SNPdbe	rs727504483
MSV3d	rs727504483
GWAS Ctlg	rs727504483

Max Magnitude

0

ClinVar
Risk	rs727504483(-;-)
Alt	rs727504483(-;-)
Reference	Rs727504483(AACA;AACA)
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.179434463_179434466delTGTT
CLNSRC
CLNACC	RCV000155611.1,