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rs879255564

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs879255564(-;-)
Make rs879255564(-;AG)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position232530139
GeneCHRND
is asnp
is mentioned by
dbSNPrs879255564
dbSNP (classic)rs879255564
ClinGenrs879255564
ebirs879255564
HLIrs879255564
Exacrs879255564
Gnomadrs879255564
Varsomers879255564
LitVarrs879255564
Maprs879255564
PheGenIrs879255564
Biobankrs879255564
1000 genomesrs879255564
hgdprs879255564
ensemblrs879255564
geneviewrs879255564
scholarrs879255564
googlers879255564
pharmgkbrs879255564
gwascentralrs879255564
openSNPrs879255564
23andMers879255564
SNPshotrs879255564
SNPdbers879255564
MSV3drs879255564
GWAS Ctlgrs879255564
Max Magnitude0
ClinVar
Risk rs879255564(-;-)
Alt rs879255564(-;-)
Reference Rs879255564(AG;AG)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRND
CLNDBN Myasthenic syndrome, congenital, 3b, fast-channel
Reversed 0
HGVS NC_000002.11:g.233394849_233394850delAG
CLNSRC Leiden Muscular Dystrophy pages (CHRND) OMIM Allelic Variant
CLNACC RCV000020035.28,