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rs387906316

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906316(G;T)
Make rs387906316(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position201754672
GeneALS2
is asnp
is mentioned by
dbSNPrs387906316
ebirs387906316
HLIrs387906316
Exacrs387906316
Varsomers387906316
Maprs387906316
PheGenIrs387906316
hapmaprs387906316
1000 genomesrs387906316
hgdprs387906316
ensemblrs387906316
gopubmedrs387906316
geneviewrs387906316
scholarrs387906316
googlers387906316
pharmgkbrs387906316
gwascentralrs387906316
openSNPrs387906316
23andMers387906316
23andMe allrs387906316
SNP Nexus

SNPshotrs387906316
SNPdbers387906316
MSV3drs387906316
GWAS Ctlgrs387906316
Max Magnitude0
ClinVar
Risk rs387906316(T;T)
Alt rs387906316(T;T)
Reference rs387906316(G;G)
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.202619395C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004659.4,