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rs386134180

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386134180(G;T)
Make rs386134180(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position201723425
GeneALS2
is asnp
is mentioned by
dbSNPrs386134180
ebirs386134180
HLIrs386134180
Exacrs386134180
Varsomers386134180
Maprs386134180
PheGenIrs386134180
hapmaprs386134180
1000 genomesrs386134180
hgdprs386134180
ensemblrs386134180
gopubmedrs386134180
geneviewrs386134180
scholarrs386134180
googlers386134180
pharmgkbrs386134180
gwascentralrs386134180
openSNPrs386134180
23andMers386134180
23andMe allrs386134180
SNP Nexus

SNPshotrs386134180
SNPdbers386134180
MSV3drs386134180
GWAS Ctlgrs386134180
Max Magnitude0
ClinVar
Risk rs386134180(T;T)
Alt rs386134180(T;T)
Reference rs386134180(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.202588148C>A
CLNSRC
CLNACC RCV000034965.2,