rs376039938

Orientation

plus

Stabilized

plus

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

Make rs376039938(C;G)

Make rs376039938(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

119100802

Gene	DPAGT1, LOC107984397

is a	snp
is	mentioned by
dbSNP	rs376039938
dbSNP (classic)	rs376039938
ClinGen	rs376039938
ebi	rs376039938
HLI	rs376039938
Exac	rs376039938
Gnomad	rs376039938
Varsome	rs376039938
LitVar	rs376039938
Map	rs376039938
PheGenI	rs376039938
Biobank	rs376039938
1000 genomes	rs376039938
hgdp	rs376039938
ensembl	rs376039938
geneview	rs376039938
scholar	rs376039938
google	rs376039938
pharmgkb	rs376039938
gwascentral	rs376039938
openSNP	rs376039938
23andMe	rs376039938
SNPshot	rs376039938
SNPdbe	rs376039938
MSV3d	rs376039938
GWAS Ctlg	rs376039938

Max Magnitude

0

ClinVar
Risk	rs376039938(G;G)
Alt	rs376039938(G;G)
Reference	Rs376039938(C;C)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome 13
Variation	info
Gene	DPAGT1
CLNDBN	Congenital myasthenic syndrome 13
Reversed	0
HGVS	NC_000011.9:g.118971512C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030602.26,