rs199476317

plus

Geno	Mag	Summary
(A;G)	6.2	Familial Hypertrophic Cardiomyopathy
(G;G)	0	common in clinvar

Make rs199476317(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

63062263

Gene

TPM1

is a	snp
is	mentioned by
dbSNP	rs199476317
dbSNP (classic)	rs199476317
ClinGen	rs199476317
ebi	rs199476317
HLI	rs199476317
Exac	rs199476317
Gnomad	rs199476317
Varsome	rs199476317
LitVar	rs199476317
Map	rs199476317
PheGenI	rs199476317
Biobank	rs199476317
1000 genomes	rs199476317
hgdp	rs199476317
ensembl	rs199476317
geneview	rs199476317
scholar	rs199476317
google	rs199476317
pharmgkb	rs199476317
gwascentral	rs199476317
openSNP	rs199476317
23andMe	rs199476317
SNPshot	rs199476317
SNPdbe	rs199476317
MSV3d	rs199476317
GWAS Ctlg	rs199476317

Max Magnitude

6.2

ClinVar
Risk	rs199476317(A;A)
Alt	rs199476317(A;A)
Reference	Rs199476317(G;G)
Significance	Pathogenic
Disease	not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1Y
Variation	info
Gene	TPM1
CLNDBN	not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1Y
Reversed	0
HGVS	NC_000015.9:g.63354462G>A
CLNSRC	Leiden Muscular Dystrophy pages (TPM1)
CLNACC	RCV000024580.2, RCV000036354.3, RCV000286002.1,

[PMID 20117437 ] Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.