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rs80338865

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338865(A;G)
Make rs80338865(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position125061192
GeneKIAA0196
is asnp
is mentioned by
dbSNPrs80338865
ebirs80338865
HLIrs80338865
Exacrs80338865
Varsomers80338865
Maprs80338865
PheGenIrs80338865
hapmaprs80338865
1000 genomesrs80338865
hgdprs80338865
ensemblrs80338865
gopubmedrs80338865
geneviewrs80338865
scholarrs80338865
googlers80338865
pharmgkbrs80338865
gwascentralrs80338865
openSNPrs80338865
23andMers80338865
23andMe allrs80338865
SNP Nexus

SNPshotrs80338865
SNPdbers80338865
MSV3drs80338865
GWAS Ctlgrs80338865
Max Magnitude0
OMIM610657
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338865(G;G)
Alt rs80338865(G;G)
Reference rs80338865(A;A)
Significance Pathogenic
Disease Spastic paraplegia 8
Variation info
Gene KIAA0196
CLNDBN Spastic paraplegia 8
Reversed 1
HGVS NC_000008.10:g.126073434T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001222.3,


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