rs199474717

Orientation

minus

Stabilized

minus

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

Make rs199474717(A;A)

Make rs199474717(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

154170454

Gene

TPM3

is a	snp
is	mentioned by
dbSNP	rs199474717
dbSNP (old)	rs199474717
ClinGen	rs199474717
ebi	rs199474717
HLI	rs199474717
Exac	rs199474717
Gnomad	rs199474717
Varsome	rs199474717
Map	rs199474717
PheGenI	rs199474717
Biobank	rs199474717
1000 genomes	rs199474717
hgdp	rs199474717
ensembl	rs199474717
gopubmed	rs199474717
geneview	rs199474717
scholar	rs199474717
google	rs199474717
pharmgkb	rs199474717
gwascentral	rs199474717
openSNP	rs199474717
23andMe	rs199474717
23andMe all	rs199474717
SNPshot	rs199474717
SNPdbe	rs199474717
MSV3d	rs199474717
GWAS Ctlg	rs199474717

Max Magnitude

0

ClinVar
Risk	rs199474717(A;A)
Alt	rs199474717(A;A)
Reference	Rs199474717(G;G)
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.154142930C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000034944.1, RCV000128704.1,

[PMID 19953533] Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.