rs201322234

Orientation

plus

Stabilized

plus

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

Make rs201322234(A;A)

Make rs201322234(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

69363563

Gene

GFPT1

is a	snp
is	mentioned by
dbSNP	rs201322234
dbSNP (classic)	rs201322234
ClinGen	rs201322234
ebi	rs201322234
HLI	rs201322234
Exac	rs201322234
Gnomad	rs201322234
Varsome	rs201322234
LitVar	rs201322234
Map	rs201322234
PheGenI	rs201322234
Biobank	rs201322234
1000 genomes	rs201322234
hgdp	rs201322234
ensembl	rs201322234
geneview	rs201322234
scholar	rs201322234
google	rs201322234
pharmgkb	rs201322234
gwascentral	rs201322234
openSNP	rs201322234
23andMe	rs201322234
SNPshot	rs201322234
SNPdbe	rs201322234
MSV3d	rs201322234
GWAS Ctlg	rs201322234

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs201322234(A;A)
Alt	rs201322234(A;A)
Reference	Rs201322234(G;G)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome with tubular aggregates 1
Variation	info
Gene	GFPT1
CLNDBN	Congenital myasthenic syndrome with tubular aggregates 1
Reversed	0
HGVS	NC_000002.11:g.69590695G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022587.28,