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rs797045634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045634(G;T)
Make rs797045634(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position111981693
GeneKCND3
is asnp
is mentioned by
dbSNPrs797045634
dbSNP (classic)rs797045634
ClinGenrs797045634
ebirs797045634
HLIrs797045634
Exacrs797045634
Gnomadrs797045634
Varsomers797045634
LitVarrs797045634
Maprs797045634
PheGenIrs797045634
Biobankrs797045634
1000 genomesrs797045634
hgdprs797045634
ensemblrs797045634
geneviewrs797045634
scholarrs797045634
googlers797045634
pharmgkbrs797045634
gwascentralrs797045634
openSNPrs797045634
23andMers797045634
SNPshotrs797045634
SNPdbers797045634
MSV3drs797045634
GWAS Ctlgrs797045634
Max Magnitude0
ClinVar
Risk rs797045634(T;T)
Alt rs797045634(T;T)
Reference Rs797045634(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia 19
Variation info
Gene KCND3
CLNDBN Spinocerebellar ataxia 19
Reversed 1
HGVS NC_000001.10:g.112524315C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000194577.1,