rs199476146

Orientation

minus

Stabilized

minus

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

Make rs199476146(-;-)

Make rs199476146(-;AGA)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

35689796

Gene

TPM2

is a	snp
is	mentioned by
dbSNP	rs199476146
dbSNP (classic)	rs199476146
ClinGen	rs199476146
ebi	rs199476146
HLI	rs199476146
Exac	rs199476146
Gnomad	rs199476146
Varsome	rs199476146
LitVar	rs199476146
Map	rs199476146
PheGenI	rs199476146
Biobank	rs199476146
1000 genomes	rs199476146
hgdp	rs199476146
ensembl	rs199476146
geneview	rs199476146
scholar	rs199476146
google	rs199476146
pharmgkb	rs199476146
gwascentral	rs199476146
openSNP	rs199476146
23andMe	rs199476146
SNPshot	rs199476146
SNPdbe	rs199476146
MSV3d	rs199476146
GWAS Ctlg	rs199476146

Max Magnitude

0

ClinVar
Risk	rs199476146(-;-)
Alt	rs199476146(-;-)
Reference	Rs199476146(AGA;AGA)
Significance	Pathogenic
Disease	not provided Nemaline myopathy 4
Variation	info
Gene	TPM2
CLNDBN	not provided Nemaline myopathy 4
Reversed	1
HGVS	NC_000009.11:g.35689793_35689795delTCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000128675.1, RCV000223947.2,