rs199512049

Orientation

plus

Stabilized

plus

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

Make rs199512049(C;C)

Make rs199512049(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

178591814

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs199512049
dbSNP (classic)	rs199512049
ClinGen	rs199512049
ebi	rs199512049
HLI	rs199512049
Exac	rs199512049
Gnomad	rs199512049
Varsome	rs199512049
LitVar	rs199512049
Map	rs199512049
PheGenI	rs199512049
Biobank	rs199512049
1000 genomes	rs199512049
hgdp	rs199512049
ensembl	rs199512049
geneview	rs199512049
scholar	rs199512049
google	rs199512049
pharmgkb	rs199512049
gwascentral	rs199512049
openSNP	rs199512049
23andMe	rs199512049
SNPshot	rs199512049
SNPdbe	rs199512049
MSV3d	rs199512049
GWAS Ctlg	rs199512049

Max Magnitude

0

ClinVar
Risk	rs199512049(C;C)
Alt	rs199512049(C;C)
Reference	Rs199512049(T;T)
Significance	Probable-Pathogenic
Disease	not specified not provided Dilated cardiomyopathy 1G Familial hypertrophic cardiomyopathy 9 Limb-girdle muscular dystrophy
Variation	info
Gene	TTN TTN-AS1
CLNDBN	not specified not provided Dilated cardiomyopathy 1G Familial hypertrophic cardiomyopathy 9 Limb-girdle muscular dystrophy, type 2J
Reversed	0
HGVS	NC_000002.11:g.179456541T>C
CLNSRC
CLNACC	RCV000040427.4, RCV000172654.5, RCV000196059.1, RCV000472663.1,