rs104894505

Orientation

plus

Stabilized

plus

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

Make rs104894505(A;A)

Make rs104894505(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

63044072

Gene

TPM1

is a	snp
is	mentioned by
dbSNP	rs104894505
dbSNP (classic)	rs104894505
ClinGen	rs104894505
ebi	rs104894505
HLI	rs104894505
Exac	rs104894505
Gnomad	rs104894505
Varsome	rs104894505
LitVar	rs104894505
Map	rs104894505
PheGenI	rs104894505
Biobank	rs104894505
1000 genomes	rs104894505
hgdp	rs104894505
ensembl	rs104894505
geneview	rs104894505
scholar	rs104894505
google	rs104894505
pharmgkb	rs104894505
gwascentral	rs104894505
openSNP	rs104894505
23andMe	rs104894505
SNPshot	rs104894505
SNPdbe	rs104894505
MSV3d	rs104894505
GWAS Ctlg	rs104894505

Max Magnitude

0

OMIM	191010
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894505(A;A)
Alt	rs104894505(A;A)
Reference	Rs104894505(G;G)
Significance	Pathogenic
Disease	Dilated cardiomyopathy 1Y not provided
Variation	info
Gene	TPM1
CLNDBN	Dilated cardiomyopathy 1Y not provided
Reversed	0
HGVS	NC_000015.9:g.63336271G>A
CLNSRC	Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013274.22, RCV000159370.3,

[PMID 11273725] Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.