rs138060032

Orientation

plus

Stabilized

plus

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

Make rs138060032(A;A)

Make rs138060032(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

178799566

Gene

TTN

is a	snp
is	mentioned by
dbSNP	rs138060032
dbSNP (classic)	rs138060032
ClinGen	rs138060032
ebi	rs138060032
HLI	rs138060032
Exac	rs138060032
Gnomad	rs138060032
Varsome	rs138060032
LitVar	rs138060032
Map	rs138060032
PheGenI	rs138060032
Biobank	rs138060032
1000 genomes	rs138060032
hgdp	rs138060032
ensembl	rs138060032
geneview	rs138060032
scholar	rs138060032
google	rs138060032
pharmgkb	rs138060032
gwascentral	rs138060032
openSNP	rs138060032
23andMe	rs138060032
SNPshot	rs138060032
SNPdbe	rs138060032
MSV3d	rs138060032
GWAS Ctlg	rs138060032

Max Magnitude

0

ClinVar
Risk	rs138060032(A;A)
Alt	rs138060032(A;A)
Reference	Rs138060032(G;G)
Significance	Pathogenic
Disease	Hereditary myopathy with early respiratory failure not provided not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy
Variation	info
Gene	TTN
CLNDBN	Hereditary myopathy with early respiratory failure not provided not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J
Reversed	0
HGVS	NC_000002.11:g.179664293G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013495.25, RCV000172493.2, RCV000219791.1, RCV000468349.1,