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rs119103244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103244(C;T)
Make rs119103244(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position152201838
GeneSYNE1
is asnp
is mentioned by
dbSNPrs119103244
ebirs119103244
HLIrs119103244
Exacrs119103244
Varsomers119103244
Maprs119103244
PheGenIrs119103244
hapmaprs119103244
1000 genomesrs119103244
hgdprs119103244
ensemblrs119103244
gopubmedrs119103244
geneviewrs119103244
scholarrs119103244
googlers119103244
pharmgkbrs119103244
gwascentralrs119103244
openSNPrs119103244
23andMers119103244
23andMe allrs119103244
SNP Nexus

SNPshotrs119103244
SNPdbers119103244
MSV3drs119103244
GWAS Ctlgrs119103244
Max Magnitude0
OMIM608441
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119103244(A,T;A,T)
Alt rs119103244(A,T;A,T)
Reference rs119103244(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene SYNE1
CLNDBN Spinocerebellar ataxia, autosomal recessive 8
Reversed 1
HGVS NC_000006.11:g.152522973G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002419.2,