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rs318240735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs318240735(-;-)
Make rs318240735(-;GA)
ReferenceGRCh38 38.1/141
Chromosome15
Position42777133
GeneTTBK2
is asnp
is mentioned by
dbSNPrs318240735
ebirs318240735
HLIrs318240735
Exacrs318240735
Varsomers318240735
Maprs318240735
PheGenIrs318240735
hapmaprs318240735
1000 genomesrs318240735
hgdprs318240735
ensemblrs318240735
gopubmedrs318240735
geneviewrs318240735
scholarrs318240735
googlers318240735
pharmgkbrs318240735
gwascentralrs318240735
openSNPrs318240735
23andMers318240735
23andMe allrs318240735
SNP Nexus

SNPshotrs318240735
SNPdbers318240735
MSV3drs318240735
GWAS Ctlgrs318240735
Max Magnitude0
ClinVar
Risk rs318240735(;)
Alt rs318240735(;)
Reference rs318240735(GA;GA)
Significance Pathogenic
Disease Spinocerebellar ataxia 11
Variation info
Gene TTBK2
CLNDBN Spinocerebellar ataxia 11
Reversed 1
HGVS NC_000015.9:g.43069331_43069332delTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034277.2,