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rs730882123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGGGACTGGCT;GGGGACTGGCT) 0 common in clinvar
Make rs730882123(AGTCCCCG;AGTCCCCG)
Make rs730882123(AGTCCCCG;GGGGACTGGCT)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position99221671
GeneALG2, SEC61B
is asnp
is mentioned by
dbSNPrs730882123
dbSNP (old)rs730882123
ClinGenrs730882123
ebirs730882123
HLIrs730882123
Exacrs730882123
Gnomadrs730882123
Varsomers730882123
Maprs730882123
PheGenIrs730882123
Biobankrs730882123
1000 genomesrs730882123
hgdprs730882123
ensemblrs730882123
gopubmedrs730882123
geneviewrs730882123
scholarrs730882123
googlers730882123
pharmgkbrs730882123
gwascentralrs730882123
openSNPrs730882123
23andMers730882123
23andMe allrs730882123
SNP Nexus

SNPshotrs730882123
SNPdbers730882123
MSV3drs730882123
GWAS Ctlgrs730882123
Max Magnitude0
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,