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rs780991031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs780991031(A;A)
Make rs780991031(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position152369497
GeneSYNE1
is asnp
is mentioned by
dbSNPrs780991031
dbSNP (classic)rs780991031
ClinGenrs780991031
ebirs780991031
HLIrs780991031
Exacrs780991031
Gnomadrs780991031
Varsomers780991031
LitVarrs780991031
Maprs780991031
PheGenIrs780991031
Biobankrs780991031
1000 genomesrs780991031
hgdprs780991031
ensemblrs780991031
geneviewrs780991031
scholarrs780991031
googlers780991031
pharmgkbrs780991031
gwascentralrs780991031
openSNPrs780991031
23andMers780991031
SNPshotrs780991031
SNPdbers780991031
MSV3drs780991031
GWAS Ctlgrs780991031
Max Magnitude0
ClinVar
Risk rs780991031(A;A)
Alt rs780991031(A;A)
Reference Rs780991031(T;T)
Significance Probable-Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene SYNE1
CLNDBN Spinocerebellar ataxia, autosomal recessive 8
Reversed 0
HGVS NC_000006.11:g.152690632T>A
CLNSRC
CLNACC RCV000197641.1,