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rs878855058

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAG;AGAG) 0 common in clinvar
Make rs878855058(-;-)
Make rs878855058(-;AGAG)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position201757445
GeneALS2
is asnp
is mentioned by
dbSNPrs878855058
dbSNP (classic)rs878855058
ClinGenrs878855058
ebirs878855058
HLIrs878855058
Exacrs878855058
Gnomadrs878855058
Varsomers878855058
LitVarrs878855058
Maprs878855058
PheGenIrs878855058
Biobankrs878855058
1000 genomesrs878855058
hgdprs878855058
ensemblrs878855058
geneviewrs878855058
scholarrs878855058
googlers878855058
pharmgkbrs878855058
gwascentralrs878855058
openSNPrs878855058
23andMers878855058
SNPshotrs878855058
SNPdbers878855058
MSV3drs878855058
GWAS Ctlgrs878855058
Max Magnitude0
ClinVar
Risk rs878855058(-;-)
Alt rs878855058(-;-)
Reference Rs878855058(AGAG;AGAG)
Significance Pathogenic
Disease Infantile-onset ascending hereditary spastic paralysis
Variation info
Gene ALS2
CLNDBN Infantile-onset ascending hereditary spastic paralysis
Reversed 1
HGVS NC_000002.11:g.202622168_202622171delCTCT
CLNSRC
CLNACC RCV000232793.1,