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rs267606939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606939(C;T)
Make rs267606939(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position1980445
GeneLOC727993, PDYN
is asnp
is mentioned by
dbSNPrs267606939
dbSNP (classic)rs267606939
ClinGenrs267606939
ebirs267606939
HLIrs267606939
Exacrs267606939
Gnomadrs267606939
Varsomers267606939
LitVarrs267606939
Maprs267606939
PheGenIrs267606939
Biobankrs267606939
1000 genomesrs267606939
hgdprs267606939
ensemblrs267606939
geneviewrs267606939
scholarrs267606939
googlers267606939
pharmgkbrs267606939
gwascentralrs267606939
openSNPrs267606939
23andMers267606939
SNPshotrs267606939
SNPdbers267606939
MSV3drs267606939
GWAS Ctlgrs267606939
Max Magnitude0
ClinVar
Risk rs267606939(T;T)
Alt rs267606939(T;T)
Reference Rs267606939(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 23
Variation info
Gene PDYN LOC727993
CLNDBN Spinocerebellar ataxia 23
Reversed 1
HGVS NC_000020.10:g.1961091G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018095.27,