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rs730882051

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882051(G;G)
Make rs730882051(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position99221692
GeneALG2, SEC61B
is asnp
is mentioned by
dbSNPrs730882051
ebirs730882051
HLIrs730882051
Exacrs730882051
Varsomers730882051
Maprs730882051
PheGenIrs730882051
hapmaprs730882051
1000 genomesrs730882051
hgdprs730882051
ensemblrs730882051
gopubmedrs730882051
geneviewrs730882051
scholarrs730882051
googlers730882051
pharmgkbrs730882051
gwascentralrs730882051
openSNPrs730882051
23andMers730882051
23andMe allrs730882051
SNP Nexus

SNPshotrs730882051
SNPdbers730882051
MSV3drs730882051
GWAS Ctlgrs730882051
Max Magnitude0
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
CLNACC RCV000161141.4,