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rs387906889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906889(A;G)
Make rs387906889(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position12340334
GeneAFG3L2
is asnp
is mentioned by
dbSNPrs387906889
ebirs387906889
HLIrs387906889
Exacrs387906889
Varsomers387906889
Maprs387906889
PheGenIrs387906889
hapmaprs387906889
1000 genomesrs387906889
hgdprs387906889
ensemblrs387906889
gopubmedrs387906889
geneviewrs387906889
scholarrs387906889
googlers387906889
pharmgkbrs387906889
gwascentralrs387906889
openSNPrs387906889
23andMers387906889
23andMe allrs387906889
SNP Nexus

SNPshotrs387906889
SNPdbers387906889
MSV3drs387906889
GWAS Ctlgrs387906889
Max Magnitude0
ClinVar
Risk rs387906889(G;G)
Alt rs387906889(G;G)
Reference rs387906889(A;A)
Significance Pathogenic
Disease Spastic ataxia 5
Variation info
Gene AFG3L2
CLNDBN Spastic ataxia 5, autosomal recessive
Reversed 1
HGVS NC_000018.9:g.12340333T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023380.3,