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rs80338866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338866(G;T)
Make rs80338866(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position125057574
GeneKIAA0196
is asnp
is mentioned by
dbSNPrs80338866
ebirs80338866
HLIrs80338866
Exacrs80338866
Varsomers80338866
Maprs80338866
PheGenIrs80338866
hapmaprs80338866
1000 genomesrs80338866
hgdprs80338866
ensemblrs80338866
gopubmedrs80338866
geneviewrs80338866
scholarrs80338866
googlers80338866
pharmgkbrs80338866
gwascentralrs80338866
openSNPrs80338866
23andMers80338866
23andMe allrs80338866
SNP Nexus

SNPshotrs80338866
SNPdbers80338866
MSV3drs80338866
GWAS Ctlgrs80338866
Max Magnitude0
OMIM610657
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338866(C,T;C,T)
Alt rs80338866(C,T;C,T)
Reference rs80338866(G;G)
Significance Pathogenic
Disease Spastic paraplegia 8
Variation info
Gene KIAA0196
CLNDBN Spastic paraplegia 8
Reversed 1
HGVS NC_000008.10:g.126069816C>A; NC_000008.10:g.126069816C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032101.1, RCV000001221.2,


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