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rs863224929

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTTATTTCAGA;GTTATTTCAGA) 0 common in clinvar
Make rs863224929(C;C)
Make rs863224929(C;GTTATTTCAGA)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position152449641
GeneSYNE1
is asnp
is mentioned by
dbSNPrs863224929
ClinGenrs863224929
ebirs863224929
HLIrs863224929
Exacrs863224929
Varsomers863224929
Maprs863224929
PheGenIrs863224929
hapmaprs863224929
1000 genomesrs863224929
hgdprs863224929
ensemblrs863224929
gopubmedrs863224929
geneviewrs863224929
scholarrs863224929
googlers863224929
pharmgkbrs863224929
gwascentralrs863224929
openSNPrs863224929
23andMers863224929
23andMe allrs863224929
SNP Nexus

SNPshotrs863224929
SNPdbers863224929
MSV3drs863224929
GWAS Ctlgrs863224929
Max Magnitude0
ClinVar
Risk rs863224929(C;C)
Alt rs863224929(C;C)
Reference Rs863224929(GTTATTTCAGA;GTTATTTCAGA)
Significance Probable-Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene SYNE1
CLNDBN Spinocerebellar ataxia, autosomal recessive 8
Reversed 1
HGVS NC_000006.11:g.152770776_152770786delTCTGAAATAACinsG
CLNSRC
CLNACC RCV000196238.1,