rs72646867

Orientation

minus

Stabilized

minus

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

Make rs72646867(C;T)

Make rs72646867(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

178583028

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs72646867
dbSNP (classic)	rs72646867
ClinGen	rs72646867
ebi	rs72646867
HLI	rs72646867
Exac	rs72646867
Gnomad	rs72646867
Varsome	rs72646867
LitVar	rs72646867
Map	rs72646867
PheGenI	rs72646867
Biobank	rs72646867
1000 genomes	rs72646867
hgdp	rs72646867
ensembl	rs72646867
geneview	rs72646867
scholar	rs72646867
google	rs72646867
pharmgkb	rs72646867
gwascentral	rs72646867
openSNP	rs72646867
23andMe	rs72646867
SNPshot	rs72646867
SNPdbe	rs72646867
MSV3d	rs72646867
GWAS Ctlg	rs72646867

Max Magnitude

0

ClinVar
Risk	rs72646867(A;A) rs72646867(T;T)
Alt	rs72646867(A;A) rs72646867(T;T)
Reference	Rs72646867(C;C)
Significance	Non-pathogenic
Disease	not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Dilated Cardiomyopathy Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy Distal myopathy Markesbery-Griggs type Myopathy Hereditary myopathy with early respiratory failure
Variation	info
Gene	TTN TTN-AS1
CLNDBN	not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive Distal myopathy Markesbery-Griggs type Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure
Reversed	1
HGVS	NC_000002.11:g.179447755G>A
CLNSRC
CLNACC	RCV000040500.6, RCV000225958.2, RCV000274823.1, RCV000290347.1, RCV000326526.1, RCV000329910.1, RCV000369611.1, RCV000384695.1,