rs137853305

Orientation

minus

Stabilized

minus

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

Make rs137853305(C;T)

Make rs137853305(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

35685529

Gene

TPM2

is a	snp
is	mentioned by
dbSNP	rs137853305
dbSNP (classic)	rs137853305
ClinGen	rs137853305
ebi	rs137853305
HLI	rs137853305
Exac	rs137853305
Gnomad	rs137853305
Varsome	rs137853305
LitVar	rs137853305
Map	rs137853305
PheGenI	rs137853305
Biobank	rs137853305
1000 genomes	rs137853305
hgdp	rs137853305
ensembl	rs137853305
geneview	rs137853305
scholar	rs137853305
google	rs137853305
pharmgkb	rs137853305
gwascentral	rs137853305
openSNP	rs137853305
23andMe	rs137853305
SNPshot	rs137853305
SNPdbe	rs137853305
MSV3d	rs137853305
GWAS Ctlg	rs137853305

Max Magnitude

0

Nemaline myopathy; NEM4

OMIM 190990.0004

OMIM	190990
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137853305(T;T)
Alt	rs137853305(T;T)
Reference	Rs137853305(C;C)
Significance	Pathogenic
Disease	Distal arthrogryposis type 2B not provided
Variation	info
Gene	TPM2
CLNDBN	Distal arthrogryposis type 2B not provided
Reversed	1
HGVS	NC_000009.11:g.35685526G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013279.25, RCV000128682.1,

[PMID 17339586] Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.