rs104894501

Orientation

plus

Stabilized

plus

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

Make rs104894501(A;A)

Make rs104894501(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

63044030

Gene

TPM1

is a	snp
is	mentioned by
dbSNP	rs104894501
dbSNP (classic)	rs104894501
ClinGen	rs104894501
ebi	rs104894501
HLI	rs104894501
Exac	rs104894501
Gnomad	rs104894501
Varsome	rs104894501
LitVar	rs104894501
Map	rs104894501
PheGenI	rs104894501
Biobank	rs104894501
1000 genomes	rs104894501
hgdp	rs104894501
ensembl	rs104894501
geneview	rs104894501
scholar	rs104894501
google	rs104894501
pharmgkb	rs104894501
gwascentral	rs104894501
openSNP	rs104894501
23andMe	rs104894501
SNPshot	rs104894501
SNPdbe	rs104894501
MSV3d	rs104894501
GWAS Ctlg	rs104894501

Max Magnitude

0

OMIM	191010
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894501(A;A) rs104894501(C;C) rs104894501(T;T)
Alt	rs104894501(A;A) rs104894501(C;C) rs104894501(T;T)
Reference	Rs104894501(G;G)
Significance	Pathogenic
Disease	Dilated cardiomyopathy 1Y not specified
Variation	info
Gene	TPM1
CLNDBN	Dilated cardiomyopathy 1Y not specified
Reversed	0
HGVS	NC_000015.9:g.63336229G>A; NC_000015.9:g.63336229G>C; NC_000015.9:g.63336229G>T
CLNSRC	Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013275.16, RCV000488962.1, RCV000036315.3,

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