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rs863225293

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225293(C;T)
Make rs863225293(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position201709900
GeneALS2
is asnp
is mentioned by
dbSNPrs863225293
ebirs863225293
HLIrs863225293
Exacrs863225293
Varsomers863225293
Maprs863225293
PheGenIrs863225293
hapmaprs863225293
1000 genomesrs863225293
hgdprs863225293
ensemblrs863225293
gopubmedrs863225293
geneviewrs863225293
scholarrs863225293
googlers863225293
pharmgkbrs863225293
gwascentralrs863225293
openSNPrs863225293
23andMers863225293
23andMe allrs863225293
SNP Nexus

SNPshotrs863225293
SNPdbers863225293
MSV3drs863225293
GWAS Ctlgrs863225293
Max Magnitude0
ClinVar
Risk rs863225293(T;T)
Alt rs863225293(T;T)
Reference rs863225293(C;C)
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.202574623G>A
CLNSRC
CLNACC RCV000201952.1,