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rs397515476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515476(A;C)
Make rs397515476(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position111981673
GeneKCND3
is asnp
is mentioned by
dbSNPrs397515476
dbSNP (classic)rs397515476
ClinGenrs397515476
ebirs397515476
HLIrs397515476
Exacrs397515476
Gnomadrs397515476
Varsomers397515476
LitVarrs397515476
Maprs397515476
PheGenIrs397515476
Biobankrs397515476
1000 genomesrs397515476
hgdprs397515476
ensemblrs397515476
geneviewrs397515476
scholarrs397515476
googlers397515476
pharmgkbrs397515476
gwascentralrs397515476
openSNPrs397515476
23andMers397515476
SNPshotrs397515476
SNPdbers397515476
MSV3drs397515476
GWAS Ctlgrs397515476
Max Magnitude0
ClinVar
Risk rs397515476(C;C)
Alt rs397515476(C;C)
Reference Rs397515476(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia 19
Variation info
Gene KCND3
CLNDBN Spinocerebellar ataxia 19
Reversed 1
HGVS NC_000001.10:g.112524295T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056299.3,