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rs587777132

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777132(A;A)
Make rs587777132(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position201728592
GeneALS2
is asnp
is mentioned by
dbSNPrs587777132
dbSNP (classic)rs587777132
ClinGenrs587777132
ebirs587777132
HLIrs587777132
Exacrs587777132
Gnomadrs587777132
Varsomers587777132
LitVarrs587777132
Maprs587777132
PheGenIrs587777132
Biobankrs587777132
1000 genomesrs587777132
hgdprs587777132
ensemblrs587777132
geneviewrs587777132
scholarrs587777132
googlers587777132
pharmgkbrs587777132
gwascentralrs587777132
openSNPrs587777132
23andMers587777132
SNPshotrs587777132
SNPdbers587777132
MSV3drs587777132
GWAS Ctlgrs587777132
Max Magnitude0
ClinVar
Risk rs587777132(A;A) Rs587777132(G;G) rs587777132(T;T)
Alt rs587777132(A;A) Rs587777132(G;G) rs587777132(T;T)
Reference Rs587777132(C;C)
Significance Pathogenic
Disease Infantile-onset ascending hereditary spastic paralysis not provided
Variation info
Gene ALS2
CLNDBN Infantile-onset ascending hereditary spastic paralysis not provided
Reversed 1
HGVS NC_000002.11:g.202593315G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087053.4, RCV000171328.1,