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rs397515564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515564(C;C)
Make rs397515564(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position125055601
GeneKIAA0196
is asnp
is mentioned by
dbSNPrs397515564
ebirs397515564
HLIrs397515564
Exacrs397515564
Varsomers397515564
Maprs397515564
PheGenIrs397515564
hapmaprs397515564
1000 genomesrs397515564
hgdprs397515564
ensemblrs397515564
gopubmedrs397515564
geneviewrs397515564
scholarrs397515564
googlers397515564
pharmgkbrs397515564
gwascentralrs397515564
openSNPrs397515564
23andMers397515564
23andMe allrs397515564
SNP Nexus

SNPshotrs397515564
SNPdbers397515564
MSV3drs397515564
GWAS Ctlgrs397515564
Max Magnitude0
ClinVar
Risk rs397515564(C;C)
Alt rs397515564(C;C)
Reference rs397515564(G;G)
Significance Pathogenic
Disease Spastic paraplegia 8
Variation info
Gene KIAA0196
CLNDBN Spastic paraplegia 8
Reversed 1
HGVS NC_000008.10:g.126067843C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000055943.3,