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rs119103245

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103245(C;T)
Make rs119103245(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position152213737
GeneSYNE1
is asnp
is mentioned by
dbSNPrs119103245
ebirs119103245
HLIrs119103245
Exacrs119103245
Varsomers119103245
Maprs119103245
PheGenIrs119103245
hapmaprs119103245
1000 genomesrs119103245
hgdprs119103245
ensemblrs119103245
gopubmedrs119103245
geneviewrs119103245
scholarrs119103245
googlers119103245
pharmgkbrs119103245
gwascentralrs119103245
openSNPrs119103245
23andMers119103245
23andMe allrs119103245
SNP Nexus

SNPshotrs119103245
SNPdbers119103245
MSV3drs119103245
GWAS Ctlgrs119103245
Max Magnitude0
OMIM608441
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119103245(T;T)
Alt rs119103245(T;T)
Reference rs119103245(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene SYNE1
CLNDBN Spinocerebellar ataxia, autosomal recessive 8
Reversed 1
HGVS NC_000006.11:g.152534872G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002420.3,