rs730882051

Orientation

minus

Stabilized

minus

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

Make rs730882051(G;G)

Make rs730882051(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

99221692

Gene	ALG2, SEC61B

is a	snp
is	mentioned by
dbSNP	rs730882051
dbSNP (classic)	rs730882051
ClinGen	rs730882051
ebi	rs730882051
HLI	rs730882051
Exac	rs730882051
Gnomad	rs730882051
Varsome	rs730882051
LitVar	rs730882051
Map	rs730882051
PheGenI	rs730882051
Biobank	rs730882051
1000 genomes	rs730882051
hgdp	rs730882051
ensembl	rs730882051
geneview	rs730882051
scholar	rs730882051
google	rs730882051
pharmgkb	rs730882051
gwascentral	rs730882051
openSNP	rs730882051
23andMe	rs730882051
SNPshot	rs730882051
SNPdbe	rs730882051
MSV3d	rs730882051
GWAS Ctlg	rs730882051

Max Magnitude

0

ClinVar
Risk	rs730882051(G;G)
Alt	rs730882051(G;G)
Reference	Rs730882051(T;T)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	SEC61B ALG2
CLNDBN	Myasthenic syndrome, congenital, 14
Reversed	1
HGVS	NC_000009.11:g.101983974A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000161141.5,