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rs80338867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338867(G;T)
Make rs80338867(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position125056817
GeneKIAA0196
is asnp
is mentioned by
dbSNPrs80338867
ebirs80338867
HLIrs80338867
Exacrs80338867
Varsomers80338867
Maprs80338867
PheGenIrs80338867
hapmaprs80338867
1000 genomesrs80338867
hgdprs80338867
ensemblrs80338867
gopubmedrs80338867
geneviewrs80338867
scholarrs80338867
googlers80338867
pharmgkbrs80338867
gwascentralrs80338867
openSNPrs80338867
23andMers80338867
23andMe allrs80338867
SNP Nexus

SNPshotrs80338867
SNPdbers80338867
MSV3drs80338867
GWAS Ctlgrs80338867
Max Magnitude0
OMIM610657
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338867(T;T)
Alt rs80338867(T;T)
Reference rs80338867(G;G)
Significance Pathogenic
Disease Spastic paraplegia 8
Variation info
Gene KIAA0196
CLNDBN Spastic paraplegia 8
Reversed 1
HGVS NC_000008.10:g.126069059C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001220.1,


[PMID 17160902OA-icon.png] Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.