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rs863225294

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225294(A;A)
Make rs863225294(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position201746653
GeneALS2
is asnp
is mentioned by
dbSNPrs863225294
ebirs863225294
HLIrs863225294
Exacrs863225294
Varsomers863225294
Maprs863225294
PheGenIrs863225294
hapmaprs863225294
1000 genomesrs863225294
hgdprs863225294
ensemblrs863225294
gopubmedrs863225294
geneviewrs863225294
scholarrs863225294
googlers863225294
pharmgkbrs863225294
gwascentralrs863225294
openSNPrs863225294
23andMers863225294
23andMe allrs863225294
SNP Nexus

SNPshotrs863225294
SNPdbers863225294
MSV3drs863225294
GWAS Ctlgrs863225294
Max Magnitude0
ClinVar
Risk rs863225294(A;A)
Alt rs863225294(A;A)
Reference rs863225294(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.202611376G>T
CLNSRC
CLNACC RCV000201952.1,