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rs1057519453

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519453(C;C)
Make rs1057519453(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position111787060
GeneKCND3
is asnp
is mentioned by
dbSNPrs1057519453
dbSNP (old)rs1057519453
ClinGenrs1057519453
ebirs1057519453
HLIrs1057519453
Exacrs1057519453
Gnomadrs1057519453
Varsomers1057519453
LitVarrs1057519453
Maprs1057519453
PheGenIrs1057519453
Biobankrs1057519453
1000 genomesrs1057519453
hgdprs1057519453
ensemblrs1057519453
gopubmedrs1057519453
geneviewrs1057519453
scholarrs1057519453
googlers1057519453
pharmgkbrs1057519453
gwascentralrs1057519453
openSNPrs1057519453
23andMers1057519453
23andMe allrs1057519453
SNPshotrs1057519453
SNPdbers1057519453
MSV3drs1057519453
GWAS Ctlgrs1057519453
Max Magnitude0
ClinVar
Risk rs1057519453(C;C)
Alt rs1057519453(C;C)
Reference Rs1057519453(T;T)
Significance Pathogenic
Disease Spinocerebellar ataxia 19
Variation info
Gene KCND3
CLNDBN Spinocerebellar ataxia 19
Reversed 1
HGVS NC_000001.10:g.112329682A>G
CLNSRC
CLNACC RCV000416456.1,