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rs146859515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146859515(A;A)
Make rs146859515(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position66705395
GeneSPTBN2
is asnp
is mentioned by
dbSNPrs146859515
dbSNP (classic)rs146859515
ClinGenrs146859515
ebirs146859515
HLIrs146859515
Exacrs146859515
Gnomadrs146859515
Varsomers146859515
LitVarrs146859515
Maprs146859515
PheGenIrs146859515
Biobankrs146859515
1000 genomesrs146859515
hgdprs146859515
ensemblrs146859515
geneviewrs146859515
scholarrs146859515
googlers146859515
pharmgkbrs146859515
gwascentralrs146859515
openSNPrs146859515
23andMers146859515
SNPshotrs146859515
SNPdbers146859515
MSV3drs146859515
GWAS Ctlgrs146859515
Max Magnitude0
ClinVar
Risk rs146859515(A;A) rs146859515(T;T)
Alt rs146859515(A;A) rs146859515(T;T)
Reference Rs146859515(G;G)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene SPTBN2
CLNDBN Spinocerebellar ataxia, autosomal recessive 14
Reversed 0
HGVS NC_000011.9:g.66472866G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054553.4,