rs587777431

Orientation

plus

Stabilized

plus

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

Make rs587777431(C;G)

Make rs587777431(G;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

128970293

Gene

TNPO3

is a	snp
is	mentioned by
dbSNP	rs587777431
dbSNP (classic)	rs587777431
ClinGen	rs587777431
ebi	rs587777431
HLI	rs587777431
Exac	rs587777431
Gnomad	rs587777431
Varsome	rs587777431
LitVar	rs587777431
Map	rs587777431
PheGenI	rs587777431
Biobank	rs587777431
1000 genomes	rs587777431
hgdp	rs587777431
ensembl	rs587777431
geneview	rs587777431
scholar	rs587777431
google	rs587777431
pharmgkb	rs587777431
gwascentral	rs587777431
openSNP	rs587777431
23andMe	rs587777431
SNPshot	rs587777431
SNPdbe	rs587777431
MSV3d	rs587777431
GWAS Ctlg	rs587777431

Max Magnitude

0

ClinVar
Risk	rs587777431(G;G) rs587777431(T;T)
Alt	rs587777431(G;G) rs587777431(T;T)
Reference	Rs587777431(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	TNPO3
CLNDBN	Limb-girdle muscular dystrophy, type 1F
Reversed	0
HGVS	NC_000007.13:g.128610347C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000122739.3,