rs199476316

Orientation

plus

Stabilized

plus

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

Make rs199476316(C;T)

Make rs199476316(T;T)

Reference

GRCh38 38.1/142

Chromosome

15

Position

63062219

Gene

TPM1

is a	snp
is	mentioned by
dbSNP	rs199476316
dbSNP (classic)	rs199476316
ClinGen	rs199476316
ebi	rs199476316
HLI	rs199476316
Exac	rs199476316
Gnomad	rs199476316
Varsome	rs199476316
LitVar	rs199476316
Map	rs199476316
PheGenI	rs199476316
Biobank	rs199476316
1000 genomes	rs199476316
hgdp	rs199476316
ensembl	rs199476316
geneview	rs199476316
scholar	rs199476316
google	rs199476316
pharmgkb	rs199476316
gwascentral	rs199476316
openSNP	rs199476316
23andMe	rs199476316
SNPshot	rs199476316
SNPdbe	rs199476316
MSV3d	rs199476316
GWAS Ctlg	rs199476316

Max Magnitude

0

ClinVar
Risk	rs199476316(T;T)
Alt	rs199476316(T;T)
Reference	Rs199476316(C;C)
Significance	Pathogenic
Disease	not provided not specified Primary familial hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy
Variation	info
Gene	TPM1
CLNDBN	not provided not specified Primary familial hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy
Reversed	0
HGVS	NC_000015.9:g.63354418C>T
CLNSRC	Leiden Muscular Dystrophy pages (TPM1)
CLNACC	RCV000024579.3, RCV000036350.2, RCV000143959.2, RCV000144848.2, RCV000168063.2,