rs730882123

Orientation

minus

Stabilized

minus

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

Make rs730882123(AGTCCCCG;AGTCCCCG)

Make rs730882123(AGTCCCCG;GGGGACTGGCT)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

99221671

Gene	ALG2, SEC61B

is a	snp
is	mentioned by
dbSNP	rs730882123
dbSNP (classic)	rs730882123
ClinGen	rs730882123
ebi	rs730882123
HLI	rs730882123
Exac	rs730882123
Gnomad	rs730882123
Varsome	rs730882123
LitVar	rs730882123
Map	rs730882123
PheGenI	rs730882123
Biobank	rs730882123
1000 genomes	rs730882123
hgdp	rs730882123
ensembl	rs730882123
geneview	rs730882123
scholar	rs730882123
google	rs730882123
pharmgkb	rs730882123
gwascentral	rs730882123
openSNP	rs730882123
23andMe	rs730882123
SNPshot	rs730882123
SNPdbe	rs730882123
MSV3d	rs730882123
GWAS Ctlg	rs730882123

Max Magnitude

0

ClinVar
Risk	rs730882123(AGTCCCCG;AGTCCCCG)
Alt	rs730882123(AGTCCCCG;AGTCCCCG)
Reference	Rs730882123(GGGGACTGGCT;GGGGACTGGCT)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	SEC61B ALG2
CLNDBN	Myasthenic syndrome, congenital, 14
Reversed	1
HGVS	NC_000009.11:g.101983953_101983963delAGCCAGTCCCCinsCGGGGACT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000161140.4,