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rs397514749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514749(C;T)
Make rs397514749(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66707731
GeneSPTBN2
is asnp
is mentioned by
dbSNPrs397514749
ebirs397514749
HLIrs397514749
Exacrs397514749
Varsomers397514749
Maprs397514749
PheGenIrs397514749
hapmaprs397514749
1000 genomesrs397514749
hgdprs397514749
ensemblrs397514749
gopubmedrs397514749
geneviewrs397514749
scholarrs397514749
googlers397514749
pharmgkbrs397514749
gwascentralrs397514749
openSNPrs397514749
23andMers397514749
23andMe allrs397514749
SNP Nexus

SNPshotrs397514749
SNPdbers397514749
MSV3drs397514749
GWAS Ctlgrs397514749
Max Magnitude0
ClinVar
Risk rs397514749(T;T)
Alt rs397514749(T;T)
Reference rs397514749(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia 5
Variation info
Gene SPTBN2
CLNDBN Spinocerebellar ataxia 5
Reversed 1
HGVS NC_000011.9:g.66475202G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054554.4,