rs199474718

Orientation

minus

Stabilized

minus

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

Make rs199474718(A;G)

Make rs199474718(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

154170442

Gene

TPM3

is a	snp
is	mentioned by
dbSNP	rs199474718
dbSNP (classic)	rs199474718
ClinGen	rs199474718
ebi	rs199474718
HLI	rs199474718
Exac	rs199474718
Gnomad	rs199474718
Varsome	rs199474718
LitVar	rs199474718
Map	rs199474718
PheGenI	rs199474718
Biobank	rs199474718
1000 genomes	rs199474718
hgdp	rs199474718
ensembl	rs199474718
geneview	rs199474718
scholar	rs199474718
google	rs199474718
pharmgkb	rs199474718
gwascentral	rs199474718
openSNP	rs199474718
23andMe	rs199474718
SNPshot	rs199474718
SNPdbe	rs199474718
MSV3d	rs199474718
GWAS Ctlg	rs199474718

Max Magnitude

0

ClinVar
Risk	rs199474718(G;G)
Alt	rs199474718(G;G)
Reference	Rs199474718(A;A)
Significance	Pathogenic
Disease	Congenital myopathy with fiber type disproportion not provided
Variation	info
Gene	TPM3
CLNDBN	Congenital myopathy with fiber type disproportion not provided
Reversed	1
HGVS	NC_000001.10:g.154142918T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000034945.1, RCV000128705.1,

[PMID 18300303] Mutations in TPM3 are a common cause of congenital fiber type disproportion.